Các ấn phẩm phân tích gen học về bệnh nhiễm trùng do Viện Nghiên cứu di truyền Sanger Institute đăng tải (Phần 3_Các ấn bản năm 2014)

·

Genetic studies of Crohn’s disease: past, present and future.

Liu JZ and Anderson CA

Best practice & research. Clinical gastroenterology 2014;28;3;373‐86

PUBMED: 24913378 ; PMC: 4075408 ; DOI: 10.1016/j.bpg.2014.04.009

·African origin of the malaria parasite Plasmodium vivax.

Liu W, Li Y, Shaw KS, Learn GH, Plenderleith LJ, Malenke JA, Sundararaman SA, Ramirez MA, Crystal PA, Smith AG, Bibollet‐Ruche F, Ayouba A et al.,

Nature communications 2014;5;3346

PUBMED: 24557500 ; PMC: 4089193 ; DOI: 10.1038/ncomms4346

·Loss‐of‐function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T et al.,

Nature genetics 2014;46;2;188‐93

PUBMED: 24336167 ; DOI: 10.1038/ng.2851

·Do you smell what I smell? Genetic variation in olfactory perception.

Logan DW

Biochemical Society transactions 2014;42;4;861‐5

PUBMED: 25109969 ; DOI: 10.1042/BST20140052

·A DERL3‐associated defect in the degradation of SLC2A1 mediates the Warburg effect.

Lopez‐Serra P, Marcilla M, Villanueva A, Ramos‐Fernandez A, Palau A, Leal L, Wahi JE, Setien‐Baranda F, Szczesna K, Moutinho C et al.,

Nature communications 2014;5;3608

PUBMED: 24699711 ; DOI: 10.1038/ncomms4608

·Genome‐wide association analysis identifies six new loci associated with forced vital capacity.

Loth DW, Artigas MS, Gharib SA, Wain LV, Franceschini N, Koch B, Pottinger TD, Smith AV, Duan Q, Oldmeadow C, Lee MK, Strachan DP et al.,

Nature genetics 2014

PUBMED: 24929828 ; DOI: 10.1038/ng.3011

·A proteomic chronology of gene expression through the cell cycle in human myeloid leukemia cells.

Ly T, Ahmad Y, Shlien A, Soroka D, Mills A, Emanuele MJ, Stratton MR and Lamond AI

eLife 2014;3;e01630

PUBMED: 24596151 ; PMC: 3936288

·Barriers to the effective treatment of sepsis: antimicrobial agents, sepsis definitions, and host‐directed therapies.

Lyle NH, Pena OM, Boyd JH and Hancock RE

Annals of the New York Academy of Sciences 2014;1323;1;101‐14

PUBMED: 24797961 ; DOI: 10.1111/nyas.12444

·Low MITF/AXL ratio predicts early resistance to multiple targeted drugs in melanoma.

Müller J, Krijgsman O, Tsoi J, Robert L, Hugo W, Song C, Kong X, Possik PA, Cornelissen‐Steijger PD, Foppen MH, Kemper K et al.,

Nature communications 2014;5;5712

PUBMED: 25502142 ; DOI: 10.1038/ncomms6712

·Cloning of recombinant monoclonal antibodies from hybridomas in a single mammalian expression plasmid.

Müller‐Sienerth N, Crosnier C, Wright GJ and Staudt N

Methods in molecular biology (Clifton, N.J.) 2014;1131;229‐40

PUBMED: 24515469 ; DOI: 10.1007/978‐1‐62703‐992‐5_14

·Guidelines for investigating causality of sequence variants in human disease.

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA et al,,

Nature 2014;508;7497;469‐76

PUBMED: 24759409 ; DOI: 10.1038/nature13127

·The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R, Small KS and Hurles ME

PLoS genetics 2014;10;3;e1004195

PUBMED: 24603440 ; PMC: 3945173 ; DOI: 10.1371/journal.pgen.1004195

·Single cell genomics: advances and future perspectives.

Macaulay IC and Voet T

PLoS genetics 2014;10;1;e1004126

PUBMED: 24497842 ; DOI: 10.1371/journal.pgen.1004126

·Evidence for camel‐to‐human transmission of MERS coronavirus.

Madani TA, Azhar EI and Hashem AM

The New England journal of medicine 2014;371;14;1360

PUBMED: 25271614 ; DOI: 10.1056/NEJMc1409847

·Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene.

Maguire S, Estabel J, Ingham N, Pearson S, Ryder E, Carragher DM, Walker N, Sanger MGP Slc25a21 Project Team, Bussell J et al.,

PloS o­ne 2014;9;3;e91807

PUBMED: 24642684 ; PMC: 3958370 ; DOI: 10.1371/journal.pone.0091807

·Single‐cell RNA sequencing reveals T helper cells synthesizing steroids de novo to contribute to immune homeostasis.

Mahata B, Zhang X, Kolodziejczyk AA, Proserpio V, Haim‐Vilmovsky L, Taylor AE, Hebenstreit D, Dingler FA, Moignard V, Göttgens B et al.,

Cell reports 2014;7;4;1130‐42

PUBMED: 24813893 ; PMC: 4039991 ; DOI: 10.1016/j.celrep.2014.04.011

·Glucose‐6‐phosphate dehydrogenase polymorphisms and susceptibility to mild malaria in Dogon and Fulani, Mali.

Maiga B, Dolo A, Campino S, Sepulveda N, Corran P, Rockett KA, Troye‐Blomberg M, Doumbo OK and Clark TG

Malaria journal 2014;13;1;270

PUBMED: 25015414 ; PMC: 4110528 ; DOI: 10.1186/1475‐2875‐13‐270

·Fc gamma Receptor IIa‐H131R Polymorphism and Malaria Susceptibility in Sympatric Ethnic Groups, Fulani and Dogon of Mali.

Maiga B, Dolo A, Touré O, Dara V, Tapily A, Campino S, Sepulveda N, Corran P, Rockett K, Clark TG, Troye Blomberg M and Doumbo OK

Scandinavian journal of immunology 2014;79;1;43‐50

PUBMED: 24117665 ; DOI: 10.1111/sji.12122

·Characterization of Vibrio cholerae bacteriophages isolated from the environmental waters of the Lake Victoria region of Kenya.

Maina AN, Mwaura FB, Oyugi J, Goulding D, Toribio AL and Kariuki S

Current microbiology 2014;68;1;64‐70

PUBMED: 23982202 ; DOI: 10.1007/s00284‐013‐0447‐x

·Mutation in KERA Identified by Linkage Analysis and Targeted Resequencing in a Pedigree with Premature Atherosclerosis.

Maiwald S, Sivapalaratnam S, Motazacker MM, van Capelleveen JC, Bot I, de Jager SC, van Eck M, Jolley J, Kuiper J, Stephens J, Albers CA et al.,

PloS o­ne 2014;9;5;e98289

PUBMED: 24879339 ; PMC: 4039470 ; DOI: 10.1371/journal.pone.0098289

·Reappraisal of known malaria resistance loci in a large multicenter study.

Malaria Genomic Epidemiology Network and Malaria Genomic Epidemiology Network

Nature genetics 2014;46;11;1197‐204

PUBMED: 25261933 ; DOI: 10.1038/ng.3107

·Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia.

Malcovati L, Papaemmanuil E, Ambaglio I, Elena C, Gallì A, Della Porta MG, Travaglino E, Pietra D, Pascutto C, Ubezio M, Bono E, Da Vià MC et al.,

Blood 2014

PUBMED: 24970933 ; DOI: 10.1182/blood‐2014‐03‐560227

·High throughput exome coverage of clinically relevant cardiac genes.

Manase D, D Alessandro L, Manickaraj A, Al Turki S, Hurles ME and Mital S

BMC medical genomics 2014;7;1;67

PUBMED: 25496018 ; PMC: 4272796 ; DOI: 10.1186/s12920‐014‐0067‐8

·Absence of Appl2 sensitizes endotoxin shock through activation of PI3K/Akt pathway.

Mao L, Lin W, Nie T, Hui X, Gao X, Li K, Ding M, Tang X, Li P, Wang Y, Xu A, Liu P and Wu D

Cell & bioscience 2014;4;1;60

PUBMED: 25328665 ; PMC: 4201708 ; DOI: 10.1186/2045‐3701‐4‐60

·The common marmoset genome provides insight into primate biology and evolution.

Marmoset Genome Sequencing and Analysis Consortium

Nature genetics 2014;46;8;850‐7

PUBMED: 25038751 ; PMC: 4138798 ; DOI: 10.1038/ng.3042

·Parallel dynamics and evolution: Protein conformational fluctuations and assembly reflect evolutionary changes in sequence and structure.

Marsh JA and Teichmann SA

BioEssays : news and reviews in molecular, cellular and developmental biology 2014;36;2;209‐18

PUBMED: 24272815 ; DOI: 10.1002/bies.201300134

·Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S et al,

Nature genetics 2014;46;12;1283‐92

PUBMED: 25344692 ; DOI: 10.1038/ng.3122

·Assessing multivariate gene‐metabolome associations with rare variants using Bayesian reduced rank regression.

Marttinen P, Pirinen M, Sarin AP, Gillberg J, Kettunen J, Surakka I, Kangas AJ, Soininen P, O’Reilly PF, Kaakinen M, Kähönen M, Lehtimäki T et al.,

Bioinformatics (Oxford, England) 2014

PUBMED: 24665129 ; DOI: 10.1093/bioinformatics/btu140

·Bacillary dysentery from World War 1 and NCTC1, the first bacterial isolate in the National Collection.

Mather AE, Baker KS, McGregor H, Coupland P, Mather PL, Deheer‐Graham A, Parkhill J, Bracegirdle P, Russell JE and Thomson NR

Lancet (London, England) 2014;384;9955;1720

PUBMED: 25441203 ; DOI: 10.1016/S0140‐6736(14)61790‐6

·Antibiotics and Collateral Damage

MATHER,A. E.;

Science 2014;344;6183;472‐3

DOI: 10.1126/science.1252914

·The genome sequence of ectromelia virus Naval and Cornell isolates from outbreaks in North America.

Mavian C, López‐Bueno A, Bryant NA, Seeger K, Quail MA, Harris D, Barrell B and Alcami A

Virology 2014;462‐463C;218‐226

PUBMED: 24999046 ; DOI: 10.1016/j.virol.2014.06.010

·The cavefish genome reveals candidate genes for eye loss.

McGaugh SE, Gross JB, Aken B, Blin M, Borowsky R, Chalopin D, Hinaux H, Jeffery WR, Keene A, Ma L, Minx P, Murphy D, O’Quin KE, Rétaux S et al.,

Nature communications 2014;5;5307

PUBMED: 25329095 ; DOI: 10.1038/ncomms6307

·Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.

Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, Rawal R, Roef GL, Plantinga TS, Vermeulen SH, Lahti J, Simmonds MJ, Husemoen LL et al.,

PLoS genetics 2014;10;2;e1004123

PUBMED: 24586183 ; PMC: 3937134 ; DOI: 10.1371/journal.pgen.1004123

·The sex‐specific associations of the aromatase gene with Alzheimer’s disease and its interaction with IL10 in the Epistasis Project.

Medway C, Combarros O, Cortina‐Borja M, Butler HT, Ibrahim‐Verbaas CA, de Bruijn RF, Koudstaal PJ, van Duijn CM, Ikram MA, Mateo I et al.,

European journal of human genetics : EJHG 2014;22;2;216‐20

PUBMED: 23736221 ; PMC: 3895636 ; DOI: 10.1038/ejhg.2013.116

·C. elegans whole genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency.

Meier B, Cooke SL, Weiss J, Bailly AP, Alexandrov LB, Marshall J, Raine K, Maddison M, Anderson E, Stratton MR, Gartner A and Campbell PJ

Genome research 2014

PUBMED: 25030888 ; DOI: 10.1101/gr.175547.114

·Respiratory tract samples, viral load, and genome fraction yield in patients with Middle East respiratory syndrome.

Memish ZA, Al‐Tawfiq JA, Makhdoom HQ, Assiri A, Alhakeem RF, Albarrak A, Alsubaie S, Al‐Rabeeah AA, Hajomar WH, Hussain R, Kheyami AM, Almutairi A, Azhar EI, Drosten C, Watson SJ, Kellam P, Cotten M and Zumla A

The Journal of infectious diseases 2014;210;10;1590‐4

PUBMED: 24837403 ; DOI: 10.1093/infdis/jiu292

·Human infection with MERS coronavirus after exposure to infected camels, Saudi Arabia, 2013.

Memish ZA, Cotten M, Meyer B, Watson SJ, Alsahafi AJ, Al Rabeeah AA, Corman VM, Sieberg A, Makhdoom HQ, Assiri A, Al Masri M et al.,

Emerging infectious diseases 2014;20;6;1012‐5

PUBMED: 24857749 ; PMC: 4036761 ; DOI: 10.3201/eid2006.140402

·Community case clusters of Middle East respiratory syndrome coronavirus in Hafr Al‐Batin, Kingdom of Saudi Arabia: a descriptive genomic study.

Memish ZA, Cotten M, Watson SJ, Kellam P, Zumla A, Alhakeem RF, Assiri A, Rabeeah AA and Al‐Tawfiq JA

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2014;23;63‐8

PUBMED: 24699184 ; PMC: 4441753 ; DOI: 10.1016/j.ijid.2014.03.1372

·An Adipocentric View of the Metabolic Syndrome and Cardiovascular Disease

Michael Conall Dennedy and Antonio Vidal‐Puig

Current Cardiovascular Risk Reports 2014;8;3;1‐9

DOI: 10.1007/s12170‐014‐0379‐4 ; URL: http://link.springer.com/article…4‐0379‐4

·Online questionnaire development: using film to engage participants and then gather attitudes towards the sharing of genomic data.

Middleton A, Bragin E, Morley KI, Parker M and DDD Study

Social science research 2014;44;211‐23

PUBMED: 24468445 ; PMC: 3969308 ; DOI: 10.1016/j.ssresearch.2013.12.004

·Finding people who will tell you their thoughts o­n genomics‐recruitment strategies for social sciences research.

Middleton A, Bragin E, Parker M and DDD Study

Journal of community genetics 2014;5;4;291‐302

PUBMED: 24535681 ; PMC: 4159472 ; DOI: 10.1007/s12687‐014‐0184‐2

·Position statement o­n opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).

Middleton A, Patch C, Wiggins J, Barnes K, Crawford G, Benjamin C, Bruce A and Association of Genetic Nurses and Counsellors in United Kingdom and Ireland

European journal of human genetics : EJHG 2014;22;8;955‐6

PUBMED: 24398792 ; PMC: 4350604 ; DOI: 10.1038/ejhg.2013.301

·The International Cancer Genome Consortium’s evolving data‐protection policies.

Milius D, Dove ES, Chalmers D, Dyke SO, Kato K, Nicolás P, Ouellette BF, Ozenberger B, Rodriguez LL, Zeps N and Joly Y

Nature biotechnology 2014;32;6;519‐23

PUBMED: 24911490 ; DOI: 10.1038/nbt.2926

·Metabolic and Target‐Site Mechanisms Combine to Confer Strong DDT Resistance in Anopheles gambiae.

Mitchell SN, Rigden DJ, Dowd AJ, Lu F, Wilding CS, Weetman D, Dadzie S, Jenkins AM, Regna K, Boko P, Djogbenou L, Muskavitch MA, Ranson H, Paine MJ, Mayans O and Donnelly MJ

PloS o­ne 2014;9;3;e92662

PUBMED: 24675797 ; PMC: 3968025 ; DOI: 10.1371/journal.pone.0092662

·Genome‐wide analysis of selection o­n the malaria parasite Plasmodium falciparum in West African populations of differing infection endemicity.

Mobegi VA, Duffy CW, Amambua‐Ngwa A, Loua KM, Laman E, Nwakanma DC, Macinnis B, Aspeling‐Jones H, Murray L, Clark TG, Kwiatkowski DP and Conway DJ

Molecular biology and evolution 2014

PUBMED: 24644299 ; DOI: 10.1093/molbev/msu106

·Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication.

Montague MJ, Li G, Gandolfi B, Khan R, Aken BL, Searle SM, Minx P, Hillier LW, Koboldt DC, Davis BW, Driscoll CA, Barr CS et al.,

Proceedings of the National Academy of Sciences of the United States of America 2014

PUBMED: 25385592 ; DOI: 10.1073/pnas.1410083111

·Widespread epidemic cholera caused by a restricted subset of Vibrio cholerae clones.

Moore S, Thomson N, Mutreja A and Piarroux R

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2014

PUBMED: 24575898 ; DOI: 10.1111/1469‐0691.12610

·InterPregGen: Genetic studies of pre‐eclampsia in three continents

Morgan,L., MCGINNIS,R., Steinthorsdottir,V., Svyatova,G., Zakhidova,N., Lee,W.K., Iversen,A.‐C., Magnus,P., Walker,J., Casas,J.P., Sultanov,S. and Laivuori,H.;

Norsk Epidemiologi 2014;24;1‐2;141‐6

·Heterogeneity in the frequency and characteristics of homologous recombination in pneumococcal evolution.

Mostowy R, Croucher NJ, Hanage WP, Harris SR, Bentley S and Fraser C

PLoS genetics 2014;10;5;e1004300

PUBMED: 24786281 ; DOI: 10.1371/journal.pgen.1004300

·A New Method To Determine In Vivo Interactomes Reveals Binding of the Legionella pneumophila Effector PieE to Multiple Rab GTPases.

Mousnier A, Schroeder GN, Stoneham CA, So EC, Garnett JA, Yu L, Matthews SJ, Choudhary JS, Hartland EL and Frankel G

mBio 2014;5;4

PUBMED: 25118235 ; DOI: 10.1128/mBio.01148‐14

·Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.

Mtatiro SN, Singh T, Rooks H, Mgaya J, Mariki H, Soka D, Mmbando B, Msaki E, Kolder I, Thein SL, Menzel S, Cox SE, Makani J and Barrett JC

PloS o­ne 2014;9;11;e111464

PUBMED: 25372704 ; PMC: 4221031 ; DOI: 10.1371/journal.pone.0111464

·Reciprocal duplication of the williams‐beuren syndrome deletion o­n chromosome 7q11.23 is associated with schizophrenia.

Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, Sebat J, Malhotra D, Nestadt G, Conrad DF, Hurles M et al,,

Biological psychiatry 2014;75;5;371‐7

PUBMED: 23871472 ; PMC: 3838485 ; DOI: 10.1016/j.biopsych.2013.05.040

·Transmissible [corrected] dog cancer genome reveals the origin and history of an ancient cell lineage.

Murchison EP, Wedge DC, Alexandrov LB, Fu B, Martincorena I, Ning Z, Tubio JM, Werner EI, Allen J, De Nardi AB, Donelan EM et al.,

Science (New York, N.Y.) 2014;343;6169;437‐40

PUBMED: 24458646 ; PMC: 3918581 ; DOI: 10.1126/science.1247167

·The use of anthropometric measures for cardiometabolic risk identification in a rural African population.

Murphy GA, Asiki G, Nsubuga RN, Young EH, Seeley J, Sandhu MS and Kamali A

Diabetes care 2014;37;4;e64‐5

PUBMED: 24652731 ; DOI: 10.2337/dc13‐2096

·Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.

Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA et al.,

Human mutation 2014;35;1;76‐85

PUBMED: 24123394 ; DOI: 10.1002/humu.22461

·Differential methylation of the TRPA1 promoter in pain sensitivity.

MuTHER Consortium

Nature communications 2014;5;2978

PUBMED: 24496475 ; PMC: 3926001 ; DOI: 10.1038/ncomms3978

·Novel porcine‐like human G26P[19] rotavirus identified in hospitalized paediatric diarrhoea patients in Ho Chi Minh City, Vietnam.

My PV, Rabaa MA, Donato C, Cowley D, Phat VV, Dung TT, Anh PH, Vinh H, Bryant JE, Kellam P, Thwaites G, Woolhouse ME, Kirkwood CD and Baker S

The Journal of general virology 2014;95;Pt 12;2727‐33

PUBMED: 25121549 ; PMC: 4233630 ; DOI: 10.1099/vir.0.068403‐0

·Structural genomic variation as risk factor for idiopathic recurrent miscarriage.

Nagirnaja L, Palta P, Kasak L, Rull K, Christiansen OB, Nielsen HS, Steffensen R, Esko T, Remm M and Laan M

Human mutation 2014;35;8;972‐82

PUBMED: 24827138 ; DOI: 10.1002/humu.22589

·De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y et al.,

Nature genetics 2014;46;6;640‐5

PUBMED: 24747641 ; DOI: 10.1038/ng.2952

·Global identification of Smad2 and Eomesodermin targets in zebrafish identifies a conserved transcriptional network in mesendoderm and a novel role for Eomesodermin in repression of ectodermal gene expression.

Nelson AC, Cutty SJ, Niini M, Stemple DL, Flicek P, Houart C, Bruce AE and Wardle FC

BMC biology 2014;12;81

PUBMED: 25277163 ; PMC: 4206766 ; DOI: 10.1186/s12915‐014‐0081‐5

·Olfactory bulb encoding during learning under anesthesia.

Nicol AU, Sanchez‐Andrade G, Collado P, Segonds‐Pichon A and Kendrick KM

Frontiers in behavioral neuroscience 2014;8;193

PUBMED: 24926241 ; PMC: 4046573 ; DOI: 10.3389/fnbeh.2014.00193

·Insights into cancer biology through next‐generation sequencing.

Nik‐Zainal S

Clinical medicine (London, England) 2014;14 Suppl 6;s71‐7

PUBMED: 25468925 ; DOI: 10.7861/clinmedicine.14‐6‐s71

·Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC‐dependent mutations in breast cancer.

Nik‐Zainal S, Wedge DC, Alexandrov LB, Petljak M, Butler AP, Bolli N, Davies HR, Knappskog S, Martin S, Papaemmanuil E et al.,

Nature genetics 2014;46;5;487‐91

PUBMED: 24728294 ; PMC: 4137149 ; DOI: 10.1038/ng.2955

·Systematic characterization of deubiquitylating enzymes for roles in maintaining genome integrity.

Nishi R, Wijnhoven P, le Sage C, Tjeertes J, Galanty Y, Forment JV, Clague MJ, Urbé S and Jackson SP

Nature cell biology 2014;16;10;1016‐26, 1‐8

PUBMED: 25194926 ; PMC: 4183562 ; DOI: 10.1038/ncb3028

·Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.

Nones K, Waddell N, Wayte N, Patch AM, Bailey P, Newell F, Holmes O, Fink JL, Quinn MC, Tang YH, Lampe G, Quek K et al.,

Nature communications 2014;5;5224

PUBMED: 25351503 ; DOI: 10.1038/ncomms6224

·Changes in malaria parasite drug resistance in an endemic population over a 25‐year period with resulting genomic evidence of selection.

Nwakanma DC, Duffy CW, Amambua‐Ngwa A, Oriero EC, Bojang KA, Pinder M, Drakeley CJ, Sutherland CJ, Milligan PJ, Macinnis B et al.,

The Journal of infectious diseases 2014;209;7;1126‐35

PUBMED: 24265439 ; DOI: 10.1093/infdis/jit618

·A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness.

O’Connell J, Gurdasani D, Delaneau O, Pirastu N, Ulivi S, Cocca M, Traglia M, Huang J, Huffman JE, Rudan I, McQuillan R, Fraser RM et al.,

PLoS genetics 2014;10;4;e1004234

PUBMED: 24743097 ; PMC: 3990520 ; DOI: 10.1371/journal.pgen.1004234

·RNA‐seq reveals the pan‐transcriptomic impact of attenuating the gliotoxin self‐protection mechanism in Aspergillus fumigatus.

O’Keeffe G, Hammel S, Owens RA, Keane TM, Fitzpatrick DA, Jones GW and Doyle S

BMC genomics 2014;15;894

PUBMED: 25311525 ; PMC: 4209032 ; DOI: 10.1186/1471‐2164‐15‐894

·Single nucleotide variants in the protein C pathway and mortality in dialysis patients.

Ocak G, Drechsler C, Vossen CY, Vos HL, Rosendaal FR, Reitsma PH, Hoffmann MM, März W, Ouwehand WH, Krediet RT, Boeschoten EW, Dekker FW, Wanner C and Verduijn M

PloS o­ne 2014;9;5;e97251

PUBMED: 24816905 ; DOI: 10.1371/journal.pone.0097251

·Whole‐genome scans provide evidence of adaptive evolution in Malawian Plasmodium falciparum isolates.

Ocholla H, Preston MD, Mipando M, Jensen AT, Campino S, MacInnis B, Alcock D, Terlouw A, Zongo I, Oudraogo JB, Djimde AA et al.,

The Journal of infectious diseases 2014;210;12;1991‐2000

PUBMED: 24948693 ; PMC: 4241944 ; DOI: 10.1093/infdis/jiu349

·Using association rule mining to determine promising secondary phenotyping hypotheses.

Oellrich A, Jacobsen J, Papatheodorou I, Sanger Mouse Genetics Project and Smedley D

Bioinformatics (Oxford, England) 2014;30;12;i52‐59

PUBMED: 24932005 ; PMC: 4059059 ; DOI: 10.1093/bioinformatics/btu260

·The influence of disease categories o­n gene candidate predictions from model organism phenotypes.

Oellrich A, Koehler S, Washington N, Sanger Mouse Genetic Project, Mungall C, Lewis S, Haendel M, Robinson PN and Smedley D

Journal of biomedical semantics 2014;5;Suppl 1 Proceedings of the Bio‐Ontologies Spec Interest G;S4

PUBMED: 25093073 ; PMC: 4108905 ; DOI: 10.1186/2041‐1480‐5‐S1‐S4

·Linking tissues to phenotypes using gene expression profiles.

Oellrich A, Sanger Mouse Genetics Project and Smedley D

Database : the journal of biological databases and curation 2014;2014;bau017

PUBMED: 24634472 ; PMC: 3982582 ; DOI: 10.1093/database/bau017

·Regularized Machine Learning in the Genetic Prediction of Complex Traits.

Okser S, Pahikkala T, Airola A, Salakoski T, Ripatti S and Aittokallio T

PLoS genetics 2014;10;11;e1004754

PUBMED: 25393026 ; PMC: 4230844 ; DOI: 10.1371/journal.pgen.1004754

·Genome‐wide association study of sleep duration in the Finnish population.

Ollila HM, Kettunen J, Pietiläinen O, Aho V, Silander K, Kronholm E, Perola M, Lahti J, Räikkönen K, Widen E, Palotie A et al.,

Journal of sleep research 2014;23;6;609‐18

PUBMED: 25109461 ; DOI: 10.1111/jsr.12175

·An Evaluation of HIV Elite Controller Definitions within a Large Seroconverter Cohort Collaboration.

Olson AD, Meyer L, Prins M, Thiebaut R, Gurdasani D, Guiguet M, Chaix ML, Amornkul P, Babiker A, Sandhu MS, Porter K and for C. A. S. C. A. D. E. Collaboration in EuroCoord

PloS o­ne 2014;9;1;e86719

PUBMED: 24489776 ; PMC: 3904947 ; DOI: 10.1371/journal.pone.0086719

·Paving the way towards a successful and fulfilling career in computational biology.

Oluwagbemi O, Adebiyi M, Fatumo S and Macintyre G

PLoS computational biology 2014;10;5;e1003593

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PLoS pathogens 2014;10;7;e1004263

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PloS o­ne 2014;9;2;e87662

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Science translational medicine 2014;6;247;247ra102

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·A comprehensive evaluation of rodent malaria parasite genomes and gene expression.

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BMC biology 2014;12;86

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·Genome sequencing of chimpanzee malaria parasites reveals possible pathways of adaptation to human hosts.

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Nature communications 2014;5;4754

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BMC infectious diseases 2014;14;1;22

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DNA research : an international journal for rapid publication of reports o­n genes and genomes 2014;21;6;661‐71

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PloS o­ne 2014;9;8;e106278

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·Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait‐associated variants.

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Nature communications 2014;5;5345

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·The effect of FTO variation o­n increased osteoarthritis risk is mediated through body mass index: a Mendelian randomisation study.

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Annals of the rheumatic diseases 2014;73;12;2082‐6

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Nature genetics 2014;46;2;116‐25

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·Prevalence and properties of mecC methicillin‐resistant Staphylococcus aureus (MRSA) in bovine bulk tank milk in Great Britain.

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The Journal of antimicrobial chemotherapy 2014;69;3;598‐602

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BioEssays : news and reviews in molecular, cellular and developmental biology 2014;36;2;191‐9

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The Journal of clinical investigation 2014;124;9;4028‐38

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Proceedings of the National Academy of Sciences of the United States of America 2014;111;24;8901‐6

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Genome medicine 2014;6;11;103

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·Functional Characterization of Obesity‐Associated Variants Involving the α and β Isoforms of Human SH2B1.

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Endocrinology 2014;155;9;3219‐26

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·Genome‐wide bisulfite sequencing in zygotes identifies demethylation targets and maps the contribution of TET3 oxidation.

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Cell reports 2014;9;6;1990‐2000

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·RASSF1A‐LATS1 signalling stabilizes replication forks by restricting CDK2‐mediated phosphorylation of BRCA2.

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Nature cell biology 2014;16;10;962‐71, 1‐8

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Nature 2014;510;7503;76‐83

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·An Endotoxin Tolerance Signature Predicts Sepsis and Organ Dysfunction at Initial Clinical Presentation.

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EBioMedicine 2014;1;1;64‐71

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·The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease.

Peng X, Alföldi J, Gori K, Eisfeld AJ, Tyler SR, Tisoncik‐Go J, Brawand D, Law GL, Skunca N, Hatta M, Gasper DJ, Kelly SM, Chang J et al.,

Nature biotechnology 2014

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·OncoCis: annotation of cis‐ regulatory mutations in cancer.

Perera D, Chacon D, Thoms J, Poulos RC, Shlien A, Beck D, Campbell PJ, Pimanda JE and Wong J

Genome biology 2014;15;10;485

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·Functional genomics reveals that Clostridium difficile Spo0A coordinates sporulation, virulence and metabolism.

Pettit LJ, Browne HP, Yu L, Smits WK, Fagan RP, Barquist L, Martin MJ, Goulding D, Duncan SH, Flint HJ, Dougan G, Choudhary JS and Lawley TD

BMC genomics 2014;15;160

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·Global dissemination of a multidrug resistant Escherichia coli clone.

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Proceedings of the National Academy of Sciences of the United States of America 2014;111;15;5694‐9

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Nature reviews. Microbiology 2014;12;3;156

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Cell host & microbe 2014;16;6;703‐5

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·Emerging insights o­n intestinal dysbiosis during bacterial infections.

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Current opinion in microbiology 2014;17;67‐74

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·Epithelial IL‐22RA1‐mediated fucosylation promotes intestinal colonization resistance to an opportunistic pathogen.

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Cell host & microbe 2014;16;4;504‐16

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The Journal of experimental medicine 2014

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·Diarrhea in young children from low‐income countries leads to large‐scale alterations in intestinal microbiota composition.

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Genome biology 2014;15;6;R76

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·Obituary: Professor Frederick Sanger:13 August 1918 ‐ 19 November 2013

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Genetics Society News 2014;70;16‐18

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The Journal of infectious diseases 2014;209;11;1808‐15

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·A barcode of organellar genome polymorphisms identifies the geographic origin of Plasmodium falciparum strains.

Preston MD, Campino S, Assefa SA, Echeverry DF, Ocholla H, Amambua‐Ngwa A, Stewart LB, Conway DJ, Borrmann S, Michon P, Zongo I et al.,

Nature communications 2014;5;4052

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·Genetic predisposition to increased blood cholesterol and triglyceride lipid levels and risk of Alzheimer disease: a mendelian randomization analysis.

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PLoS medicine 2014;11;9;e1001713

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·A central role for GRB10 in regulation of islet function in man.

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PLoS genetics 2014;10;4;e1004235

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·A genome‐wide association analysis of a broad psychosis phenotype identifies three loci for further investigation.

Psychosis Endophenotypes International Consortium, Wellcome Trust Case‐Control Consortium 2, Bramon E, Pirinen M, Strange A, Lin K, Freeman C et al.,

Biological psychiatry 2014;75;5;386‐97

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·A polygenic burden of rare disruptive mutations in schizophrenia.

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Nature 2014;506;7487;185‐90

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·A global analysis of Y‐chromosomal haplotype diversity for 23 STR loci.

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Forensic science international. Genetics 2014;12;12‐23

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·FTO genetic variants, dietary intake, and body mass index: insights from 177,330 individuals.

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Human molecular genetics 2014

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·SASI‐Seq: sample assurance Spike‐Ins, and highly differentiating 384 barcoding for Illumina sequencing.

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BMC genomics 2014;15;1;110

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·Central regulation of bone mass.

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Archives of biochemistry and biophysics 2014

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·In utero effects. In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism.

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Science (New York, N.Y.) 2014;345;6198;1255903

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·Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations.

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American journal of human genetics 2014;94;6;915‐23

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·Characterizing genetic variants for clinical action.

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American journal of medical genetics. Part C, Seminars in medical genetics 2014;166;1;93‐104

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·Meta‐analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX‐II with genome wide significance.

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Journal of medical genetics 2014;51;9;596‐604

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·Plasmid coding sequence‐five influences infectivity and virulence in a mouse model of Chlamydia trachomatis urogenital infection.

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Infection and immunity 2014

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·A genomic island integrated into recA of Vibrio cholerae contains a divergent recA and provides multi‐pathway protection from DNA damage.

Rapa RA, Islam A, Monahan LG, Mutreja A, Thomson N, Charles IG, Stokes HW and Labbate M

Environmental microbiology 2014

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·Differential and limited expression of mutant alleles in multiple myeloma.

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Blood 2014;124;20;3110‐7

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·Using the MEROPS Database for Proteolytic Enzymes and Their Inhibitors and Substrates.

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Current protocols in bioinformatics / editoral board, Andreas D. Baxevanis … [et al.] 2014;48;1.25.1‐1.25.33

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·MEROPS: the database of proteolytic enzymes, their substrates and inhibitors.

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Nucleic acids research 2014;42;Database issue;D503‐9

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·Deciphering the origin of the 2012 cholera epidemic in Guinea by integrating epidemiological and molecular analyses.

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PLoS neglected tropical diseases 2014;8;6;e2898

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·How synthetic biology will reconsider natural bioluminescence and its applications

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Advances in Biochemical Engineering/Biotechnology 2014;145;3‐30

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·Bioinformatic Analysis of Expression Data to Identify Effector Candidates.

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Methods in molecular biology (Clifton, N.J.) 2014;1127;17‐27

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·Genomic analysis of the causative agents of coccidiosis in domestic chickens.

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Genome research 2014;24;10;1676‐85

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·Epigenetics: Cellular memory erased in human embryos.

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Nature 2014;511;7511;540‐1

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·Parallel independent evolution of pathogenicity within the genus Yersinia.

Reuter S, Connor TR, Barquist L, Walker D, Feltwell T, Harris SR, Fookes M, Hall ME, Petty NK, Fuchs TM, Corander J, Dufour M, Ringwood T, Savin C et al.,

Proceedings of the National Academy of Sciences of the United States of America 2014;111;18;6768‐73

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·Novel Genetic Associations with Serum Level Metabolites Identified by Phenotype Set Enrichment Analyses.

Ried JS, Shin SY, Krumsiek J, Illig T, Theis FJ, Spector TD, Adamski J, Wichmann HE, Strauch K, Soranzo N, Suhre K and Gieger C

Human molecular genetics 2014

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·Structure‐ and context‐based analysis of the GxGYxYP family reveals a new putative class of glycoside hydrolase.

Rigden DJ, Eberhardt RY, Gilbert HJ, Xu Q, Chang Y and Godzik A

BMC bioinformatics 2014;15;196

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·Urbanicity and lifestyle risk factors for cardiometabolic diseases in rural Uganda: a cross‐sectional study.

Riha J, Karabarinde A, Ssenyomo G, Allender S, Asiki G, Kamali A, Young EH, Sandhu MS and Seeley J

PLoS medicine 2014;11;7;e1001683

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·Computational approaches to interpreting genomic sequence variation.

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Genome medicine 2014;6;10;87

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·Functional annotation of noncoding sequence variants.

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Nature methods 2014;11;3;294‐6

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·Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis’.

Robinson EB, Howrigan D, Yang J, Ripke S, Anttila V, Duncan LE, Jostins L, Barrett JC, Medland SE, MacArthur DG, Breen G et al.,

Molecular psychiatry 2014;19;8;860‐1

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·Improved exome prioritization of disease genes through cross‐species phenotype comparison.

Robinson PN, Köhler S, Oellrich A, Sanger Mouse Genetics Project, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D et al.,

Genome research 2014;24;2;340‐8

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·Cross‐species analysis of mouse and human cancer genomes.

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Cold Spring Harbor protocols 2014;2014;4;350‐8

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·POT1 loss‐of‐function variants predispose to familial melanoma.

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Nature genetics 2014;46;5;478‐81

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·Assessment of osteoarthritis candidate genes in a meta‐analysis of nine genome‐wide association studies.

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Arthritis & rheumatology (Hoboken, N.J.) 2014;66;4;940‐9

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