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Results: 24
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Jie Huang, Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L Min, Petr Danecek, Giovanni Malerba, Elisabetta Trabetti, Hou-Feng Zheng, UK10K consortium, Giovanni Gambaro, J Brent Richards, Richard Durbin, Nicholas J Timpson, Jonathan Marchini, Nicole Soranzo
Jun 25, 2018
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts...
An interactive genome browser of association results from the UK10K cohorts project.
Matthias Geihs, Ying Yan, Klaudia Walter, Jie Huang, Yasin Memari, Josine L Min, Daniel Mead, UK10K consortium, Tim J Hubbard, Nicholas J Timpson, Thomas A Down, Nicole Soranzo
Jun 25, 2018
UNLABELLED: High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts...
The UK10K project identifies rare variants in health and disease.
UK10K consortium, Klaudia Walter, Josine L Min, Jie Huang, Lucy Crooks, Yasin Memari, Shane McCarthy, John RB Perry, ChangJiang Xu, Marta Futema, Daniel Lawson, Valentina Iotchkova, Stephan Schiffels, Audrey E Hendricks, Petr Danecek, Rui Li, James Floyd, Louise V Wain, Inês Barroso, Steve E Humphries, Matthew E Hurles, Eleftheria Zeggini, Jeffrey C Barrett, Vincent Plagnol, J Brent Richards, Celia MT Greenwood, Nicholas J Timpson, Richard Durbin, Nicole Soranzo
Jun 25, 2018
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000...
Adiponectin Alleles Cohort Studies Disease Exome Female Genetic Predisposition to Disease genetic variation Genetics Medical Genetics Population Genome Human Genome-Wide Association Study Genomics HEALTH Humans Lipid Metabolism Male Molecular Sequence Annotation Receptors LDL Reference Standards Sequence Analysis DNA Triglycerides United Kingdom
Estimating telomere length from whole genome sequence data.
Zhihao Ding, Massimo Mangino, Abraham Aviv, Tim Spector, Richard Durbin, UK10K consortium
Jun 25, 2018
Telomeres play a key role in replicative ageing and undergo age-dependent attrition in vivo. Here, we report a novel method, TelSeq, to measure average telomere length from whole genome or exome shotgun sequence data. In 260...
Truncation of POC1A associated with short stature and extreme insulin resistance.
Jian-Hua Chen, Maria Segni, Felicity Payne, Isabel Huang-Doran, Alison Sleigh, Claire Adams, UK10K consortium, David B Savage, Stephen O'Rahilly, Robert K Semple, Inês Barroso
Aug 19, 2015
POC1A centriole Centrosome Diabetes dyslipidaemia Insulin Resistance primary cilium short stature skeletal dysplasia Adult Amino Acid Sequence Body Height Cell Cycle Cell Cycle Proteins Centrioles Centrosome Cytoskeletal Proteins Dwarfism Facies Fatty Liver Female Frameshift Mutation Humans Insulin Resistance Mitosis Molecular Sequence Data Protein Isoforms Proteins Sequence Alignment Spindle Apparatus
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.
Yali Xue, Massimo Mezzavilla, Marc Haber, Shane McCarthy, Yuan Chen, Vagheesh Narasimhan, Arthur Gilly, Qasim Ayub, Vincenza Colonna, Lorraine Southam, Christopher Finan, Andrea Massaia, Himanshu Chheda, Priit Palta, Graham Ritchie, Jennifer Asimit, George Dedoussis, Paolo Gasparini, Aarno Palotie, Samuli Ripatti, Nicole Soranzo, Daniela Toniolo, James F Wilson, Richard Durbin, Chris Tyler-Smith, Eleftheria Zeggini
Aug 15, 2018
The genetic features of isolated populations can boost power in complex-trait association studies, and an in-depth understanding of how their genetic variation has been shaped by their demographic history can help leverage these...
Timing, rates and spectra of human germline mutation.
Raheleh Rahbari, Arthur Wuster, Sarah J Lindsay, Robert J Hardwick, Ludmil B Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R Stratton, UK10K consortium, Matthew E Hurles
Aug 02, 2019
Germline mutations are a driving force behind genome evolution and genetic disease. We investigated genome-wide mutation rates and spectra in multi-sibling families. The mutation rate increased with paternal age in all families...
Low Frequency Synonymous Coding Variation in CYP2R1 has Large Effects on Vitamin D Level and Risk of Multiple Sclerosis
SJ Sawcer
Nov 28, 2017
Vitamin D insufficiency is common, correctable and influenced by genetic factors, and it has been associated with risk of several diseases. We sought to identify low-frequency genetic variants that strongly increased the risk of...
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis.
Yongjie Yang, Agatha A van der Klaauw, Liangru Zhu, Tessa M Cacciottolo, Yanlin He, Lukas KJ Stadler, Chunmei Wang, Pingwen Xu, Kenji Saito, Antentor Hinton, Xiaofeng Yan, Julia M Keogh, Elana Henning, Matthew C Banton, Audrey E Hendricks, Elena G Bochukova, Vanisha Mistry, Katherine L Lawler, Lan Liao, Jianming Xu, Stephen O'Rahilly, Qingchun Tong, UK10K consortium, Inês Barroso, Bert W O'Malley, I Sadaf Farooqi, Yong Xu
Feb 01, 2019
Hypothalamic neurons expressing the anorectic peptide Pro-opiomelanocortin (Pomc) regulate food intake and body weight. Here, we show that Steroid Receptor Coactivator-1 (SRC-1) interacts with a target of leptin receptor...
Alleles Animals Body Weight Cell Line Tumor Crosses Genetic Gene Deletion Gene Knock-In Techniques genetic variation HEK293 Cells Heterozygote Homeostasis Humans Hypothalamus Leptin Male Membrane Potentials Mice Mice Transgenic Mutation Missense Neurons Nuclear Receptor Coactivator 1 obesity Phenotype
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Laura R Pearce, Neli Atanassova, Matthew C Banton, Bill Bottomley, Agatha A van der Klaauw, Jean-Pierre Revelli, Audrey Hendricks, Julia M Keogh, Elana Henning, Deon Doree, Sabrina Jeter-Jones, Sumedha Garg, Elena G Bochukova, Rebecca Bounds, Sofie Ashford, Emma Gayton, Peter C Hindmarsh, Julian PH Shield, Elizabeth Crowne, David Barford, Nick J Wareham, UK10K consortium, Stephen O'Rahilly, Michael P Murphy, David R Powell, Ines Barroso, I Sadaf Farooqi
Mar 17, 2015
Age Factors Age of Onset Amino Acid Sequence Animals Child Energy Metabolism Fatty Acids Female Glucose Humans Hyperphagia Insulin Resistance MAP Kinase Signaling System Male Mice Models Molecular Molecular Sequence Data obesity Oxidation-Reduction Protein Serine-Threonine Kinases Protein Structure Tertiary Proto-Oncogene Proteins B-raf Sequence Alignment
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.
Lee Moir, Elena G Bochukova, Rebecca Dumbell, Gareth Banks, Rasneer S Bains, Patrick M Nolan, Cheryl Scudamore, Michelle Simon, Kimberly A Watson, Julia Keogh, Elana Henning, Audrey Hendricks, Stephen O'Rahilly, Inês Barroso, UK10K consortium, Adrienne E Sullivan, David C Bersten, Murray L Whitelaw, Susan Kirsch, Elizabeth Bentley, I Sadaf Farooqi, Roger D Cox
Jan 24, 2018
OBJECTIVE: Genetic studies in obese rodents and humans can provide novel insights into the mechanisms involved in energy homeostasis. METHODS: In this study, we genetically mapped the chromosomal region underlying the...
Energy balance Human mutation mouse model OTP obesity Oxytocin vasopressin Amino Acid Sequence Animals Anxiety Base Sequence Brain Chromosome Mapping Databases Genetic Female Gene Expression Gene Expression Regulation Developmental Genes Homeobox Homeodomain Proteins Humans Hypothalamus Male Mice Nerve Tissue Proteins Neurosecretory Systems obesity Transcription Factors Transcriptome
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.
Gaëlle Marenne, Audrey E Hendricks, Aliki Perdikari, Rebecca Bounds, Felicity Payne, Julia M Keogh, Christopher J Lelliott, Elana Henning, Saad Pathan, Sofie Ashford, Elena G Bochukova, Vanisha Mistry, Allan Daly, Caroline Hayward, UK10K Consortium INTERVAL, Nicholas J Wareham, Stephen O'Rahilly, Claudia Langenberg, Eleanor Wheeler, Eleftheria Zeggini, I Sadaf Farooqi, Inês Barroso
Jan 15, 2021
Obesity is genetically heterogeneous with monogenic and complex polygenic forms. Using exome and targeted sequencing in 2,737 severely obese cases and 6,704 controls, we identified three genes (PHIP, DGKI, and ZMYM4) with an...
Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance.
Agatha A van der Klaauw, Sophie Croizier, Edson Mendes de Oliveira, Lukas KJ Stadler, Soyoung Park, Youxin Kong, Matthew C Banton, Panna Tandon, Audrey E Hendricks, Julia M Keogh, Susanna E Riley, Sofia Papadia, Elana Henning, Rebecca Bounds, Elena G Bochukova, Vanisha Mistry, Stephen O'Rahilly, Richard B Simerly, INTERVAL, UK10K consortium, James EN Minchin, Inês Barroso, E Yvonne Jones, Sebastien G Bouret, I Sadaf Farooqi
Jan 29, 2019
Hypothalamic melanocortin neurons play a pivotal role in weight regulation. Here, we examined the contribution of Semaphorin 3 (SEMA3) signaling to the development of these circuits. In genetic studies, we found 40 rare variants...
AGRP Neuropilins Plexins POMC Semaphorin 3s Hypothalamus obesity Adolescent Adult Animals Body Weight Cell Line Child Child Preschool Disease Models Animal Eating Energy Metabolism Female genetic variation Homeostasis Humans Hypothalamus Leptin Male Melanocortins Mice Mice Inbred C57BL Middle Aged Nerve Tissue Proteins Neurons obesity Receptors Cell Surface Semaphorins Young Adult Zebrafish
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Hakan Cangul, Xiao-Hui Liao, Erik Schoenmakers, Jukka Kero, Sharon Barone, Panudda Srichomkwun, Hideyuki Iwayama, Eva G Serra, Halil Saglam, Erdal Eren, Omer Tarim, Adeline K Nicholas, Ilona Zvetkova, Carl A Anderson, Fiona E Karet Frankl, Kristien Boelaert, Marja Ojaniemi, Jarmo Jääskeläinen, Konrad Patyra, Christoffer Löf, E Dillwyn Williams, UK10K consortium, Manoocher Soleimani, Timothy Barrett, Eamonn R Maher, V Krishna Chatterjee, Samuel Refetoff, Nadia Schoenmakers
Dec 04, 2018
Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that...
Endocrinology Genetics Molecular genetics Monogenic diseases Thyroid disease Adult Animals Antiporters Child Child Preschool Codon Nonsense congenital hypothyroidism DNA Mutational Analysis Female Goiter HEK293 Cells Homozygote Humans Male Mice Mice Knockout Middle Aged Pedigree Sulfate Transporters Thyroid Gland Exome Sequencing
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Miriam Schmidts, Yuqing Hou, Claudio R Cortés, Dorus A Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia EC van Beersum, Zhi Min Yap, Stef JF Letteboer, S Paige Taylor, Warren Herridge, Colin A Johnson, Peter J Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M King, UK10K, Philip L Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M Mitchison, George B Witman
Jun 25, 2018
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2...
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Maria-Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger Stevenson, Charles Schwartz, James AB Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Italian X-linked Mental Retardation Project, UK10K consortium, GOLD Consortium, Matthew Hurles, F Lucy Raymond
Sep 15, 2015
Mendelian disease developmental delay Intellectual Disability next-generation sequencing Alleles Cohort Studies Computational Biology Female Genetic Association Studies High-Throughput Nucleotide Sequencing Humans Inheritance Patterns Intellectual Disability Male Mutation Polymorphism Single Nucleotide
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, M Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton-Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, UK10K consortium, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E Hurles, Helen V Firth, F Lucy Raymond, Usha Kini, Christoffer Nellåker, DDD Study, David R FitzPatrick
Jun 25, 2018
PURPOSE: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability. METHODS: Twenty previously unreported individuals with 19 different...
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Kathleen M Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J Carss, Emily Bryant, Adi Reich, Amy L Schneider, Ronit M Pressler, Michael A Simpson, Geoff D Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R Paciorkowski, Mary D King, J Helen Cross, Annapurna Poduri, Heather C Mefford, Ingrid E Scheffer, Tobias B Haack, Gary McCullagh, Deciphering Developmental Disorders Study, UK10K consortium, NIHR BioResource, John J Millichap, Gemma L Carvill, Jill Clayton-Smith, Eamonn R Maher, F Lucy Raymond, Manju A Kurian
May 10, 2019
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
AE Hendricks, EG Bochukova, G Marenne, JM Keogh, N Atanassova, R Bounds, E Wheeler, V Mistry, E Henning, A Körner, D Muddyman, S McCarthy, A Hinney, J Hebebrand, RA Scott, C Langenberg, NJ Wareham, P Surendran, JM Howson, AS Butterworth, J Danesh, BG Nordestgaard, SF Nielsen, S Afzal, S Papadia, S Ashford, S Garg, GL Millhauser, RI Palomino, A Kwasniewska, I Tachmazidou, S O'Rahilly, E Zeggini, I Barroso, IS Farooqi, Understanding Society Scientific Group, EPIC-CVD Consortium, UK10K consortium
Aug 22, 2017
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Simon Haworth, Chin Yang Shapland, Caroline Hayward, Bram P Prins, Janine F Felix, Carolina Medina-Gomez, Fernando Rivadeneira, Carol Wang, Tarunveer S Ahluwalia, Martine Vrijheid, Mònica Guxens, Jordi Sunyer, Ioanna Tachmazidou, Klaudia Walter, Valentina Iotchkova, Andrew Jackson, Louise Cleal, Jennifer Huffmann, Josine L Min, Lærke Sass, Paul RHJ Timmers, UK10K consortium, George Davey Smith, Simon E Fisher, James F Wilson, Tim J Cole, Dietmar Fernandez-Orth, Klaus Bønnelykke, Hans Bisgaard, Craig E Pennell, Vincent WV Jaddoe, George Dedoussis, Nicholas Timpson, Eleftheria Zeggini, Veronique Vitart, Beate St Pourcain
Oct 14, 2019
Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition...
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
V Iotchkova, J Huang, JA Morris, D Jain, C Barbieri, K Walter, JL Min, L Chen, W Astle, M Cocca, P Deelen, H Elding, A-E Farmaki, CS Franklin, M Franberg, TR Gaunt, A Hofman, T Jiang, ME Kleber, G Lachance, J Luan, G Malerba, A Matchan, D Mead, Y Memari, I Ntalla, K Panoutsopoulou, R Pazoki, JRB Perry, F Rivadeneira, M Sabater-Lleal, B Sennblad, S-Y Shin, L Southam, M Traglia, F Van Dijk, EM van Leeuwen, G Zaza, W Zhang, UK10K consortium, N Amin, A Butterworth, JC Chambers, G Dedoussis, A Dehghan, OH Franco, L Franke, M Frontini, G Gambaro, P Gasparini, A Hamsten, A Issacs, JS Kooner, C Kooperberg, C Langenberg, W Marz, RA Scott, MA Swertz, D Toniolo, AG Uitterlinden, CM van Duijn, H Watkins, E Zeggini, MT Maurano, NJ Timpson, AP Reiner, PL Auer, N Soranzo
Jun 14, 2017
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H Al Turki, Bernard Thienpont, Jeremy McRae, Tomas W Fitzgerald, Tarjinder Singh, Ganesh Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul-Khaliq, Siddharth Banka, Ulrike MM Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu'Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, INTERVAL Study, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba J 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 J Parker, Thomas Pickardt, Martin O Pollard, Leema Robert, David J Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers EF Daubeney, Bernard Keavney, Judith Goodship, UK10K consortium, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F Wright, Helen V Firth, Jeffrey C Barrett, Koenraad Devriendt, David R FitzPatrick, J David Brook, Deciphering Developmental Disorders Study, Matthew E Hurles
Nov 20, 2017
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable...
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Esther Meyer, Keren J Carss, Julia Rankin, John ME Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon JH Heales, Deborah Morrogh, UK10K consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
Aug 29, 2019
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
I Tachmazidou, D Süveges, JL Min, GRS Ritchie, J Steinberg, K Walter, V Iotchkova, J Schwartzentruber, J Huang, Y Memari, S McCarthy, AA Crawford, C Bombieri, M Cocca, A-E Farmaki, TR Gaunt, P Jousilahti, MN Kooijman, B Lehne, G Malerba, S Männistö, A Matchan, C Medina-Gomez, SJ Metrustry, A Nag, I Ntalla, L Paternoster, NW Rayner, C Sala, WR Scott, HA Shihab, L Southam, B St Pourcain, M Traglia, K Trajanoska, G Zaza, W Zhang, MS Artigas, N Bansal, M Benn, Z Chen, P Danecek, W-Y Lin, A Locke, J Luan, AK Manning, A Mulas, C Sidore, A Tybjaerg-Hansen, A Varbo, M Zoledziewska, C Finan, K Hatzikotoulas, AE Hendricks, JP Kemp, A Moayyeri, K Panoutsopoulou, M Szpak, SG Wilson, M Boehnke, F Cucca, E Di Angelantonio, C Langenberg, C Lindgren, MI McCarthy, AP Morris, BG Nordestgaard, RA Scott, MD Tobin, NJ Wareham, SpiroMeta Consortium, GoT2D Consortium, P Burton, JC Chambers, GD Smith, G Dedoussis, JF Felix, OH Franco, G Gambaro, P Gasparini, CJ Hammond, A Hofman, VWV Jaddoe, M Kleber, JS Kooner, M Perola, C Relton, SM Ring, F Rivadeneira, V Salomaa, TD Spector, O Stegle, D Toniolo, AG Uitterlinden, arcOGEN Consortium, Understanding Society Scientific Group, UK10K consortium, I Barroso, CMT Greenwood, JRB Perry, BR Walker, AS Butterworth, Y Xue, R Durbin, KS Small, N Soranzo, NJ Timpson, E Zeggini
Jul 03, 2017
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome...