M
Martin O. Pollard
Researcher at Wellcome Trust Sanger Institute
Publications - 19
Citations - 4253
Martin O. Pollard is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Population & Genome-wide association study. The author has an hindex of 14, co-authored 19 publications receiving 1654 citations. Previous affiliations of Martin O. Pollard include University of Cambridge.
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Journal ArticleDOI
Twelve years of SAMtools and BCFtools.
Petr Danecek,James K. Bonfield,Jennifer Liddle,John Marshall,Valeriu Ohan,Martin O. Pollard,Andrew Whitwham,Thomas M. Keane,Shane A. McCarthy,Robert L. Davies,Heng Li +10 more
TL;DR: The SAMtools and BCFtools packages represent a unique collection of tools that have been used in numerous other software projects and countless genomic pipelines and are freely available on GitHub under the permissive MIT licence, free for both noncommercial and commercial use.
Journal ArticleDOI
The African Genome Variation Project shapes medical genetics in Africa
Deepti Gurdasani,Tommy Carstensen,Tommy Carstensen,Fasil Tekola-Ayele,Luca Pagani,Ioanna Tachmazidou,Konstantinos Hatzikotoulas,Savita Karthikeyan,Savita Karthikeyan,Louise Iles,Martin O. Pollard,Ananyo Choudhury,Graham R. S. Ritchie,Yali Xue,Jennifer L. Asimit,Rebecca N. Nsubuga,Elizabeth H. Young,Elizabeth H. Young,Cristina Pomilla,Cristina Pomilla,Katja Kivinen,K Rockett,Anatoli Kamali,Ayo P. Doumatey,Gershim Asiki,Janet Seeley,Fatoumatta Sisay-Joof,Muminatou Jallow,Stephen Tollman,Ephrem Mekonnen,Rosemary Ekong,Tamiru Oljira,Neil Bradman,Kalifa Bojang,Michèle Ramsay,Adebowale Adeyemo,Endashaw Bekele,Ayesha A. Motala,Shane A. Norris,Fraser J. Pirie,Pontiano Kaleebu,Dominic P. Kwiatkowski,Chris Tyler-Smith,Charles N. Rotimi,Eleftheria Zeggini,Manjinder S. Sandhu,Manjinder S. Sandhu +46 more
TL;DR: It is shown that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa.
Journal ArticleDOI
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim,Marc-Phillip Hitz,Anna Wilsdon,Jeroen Breckpot,Saeed Al Turki,Saeed Al Turki,Saeed Al Turki,Bernard Thienpont,Jeremy F. McRae,Tomas W Fitzgerald,Tarjinder Singh,Ganesh J. Swaminathan,Elena Prigmore,Diana Rajan,Hashim Abdul-Khaliq,Siddharth Banka,Siddharth Banka,U.M.M. Bauer,Jamie Bentham,Felix Berger,Shoumo Bhattacharya,Frances A. Bu'Lock,Natalie Canham,Irina-Gabriela Colgiu,Catherine Cosgrove,Helen Cox,Ingo Daehnert,Allan Daly,John Danesh,John Danesh,Alan Fryer,Marc Gewillig,Emma Hobson,Kirstin Hoff,Tessa Homfray,Anne-Karin Kahlert,Ami Ketley,Hans-Heiner Kramer,Katherine Lachlan,Katherine Lachlan,Katherine Lachlan,AK Lampe,Jacoba Louw,Ashok Kumar Manickara,Dorin Manase,Karen P. McCarthy,Kay Metcalfe,Carmel Moore,Ruth Newbury-Ecob,Seham Osman Omer,Willem H. Ouwehand,Soo-Mi Park,Michael Parker,Thomas Pickardt,Martin O. Pollard,Leema Robert,David J. Roberts,David J. Roberts,David J. Roberts,Jennifer G. Sambrook,Kerry Setchfield,Brigitte Stiller,Christopher Thornborough,Okan Toka,Hugh Watkins,Denise Williams,Michael Wright,Seema Mital,Piers E.F. Daubeney,Bernard Keavney,Judith A. Goodship,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Sabine Klaassen,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Koenraad Devriendt,David R. FitzPatrick,J. David Brook,Matthew E. Hurles +81 more
TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.
Journal ArticleDOI
Long reads: their purpose and place.
Martin O. Pollard,Deepti Gurdasani,Deepti Gurdasani,Alexander J. Mentzer,Tarryn Porter,Tarryn Porter,Manjinder S. Sandhu,Manjinder S. Sandhu +7 more
TL;DR: This article will endeavour to present an introduction to long-read technologies showing: what long reads are; how they are distinct from short reads; whylong reads are useful and how they is being used.
Journal ArticleDOI
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
Yang Luo,Yang Luo,Yang Luo,Katrina M. de Lange,Luke Jostins,Luke Jostins,Loukas Moutsianas,Joshua C. Randall,Nicholas A. Kennedy,Christopher A. Lamb,Shane A. McCarthy,Tariq Ahmad,Cathryn Edwards,Eva Goncalves Serra,Ailsa Hart,Christopher J. Hawkey,John C. Mansfield,Craig Mowat,William G. Newman,Sam Nichols,Martin O. Pollard,Jack Satsangi,Alison Simmons,Alison Simmons,Mark Tremelling,Holm H. Uhlig,David C Wilson,David C Wilson,James Lee,Natalie J. Prescott,Charlie W. Lees,Christopher G. Mathew,Miles Parkes,Jeffrey C. Barrett,Carl A. Anderson +34 more
TL;DR: A burden of very rare, damaging missense variants in known Crohn's disease risk genes is detected, suggesting that more comprehensive sequencing studies will continue to improve understanding of the biology of complex diseases.