Health and population effects of rare gene knockouts in adult humans with related parents

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

(2016) Sara L. Van Driest et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

(2015) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans

(2015) Ziyue Gao et al.   GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

(2015) Ron Do et al.   NATURE GENETICS

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Putting the breaks on meiosis

(2015) M. Lichten   SCIENCE

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

(2015) Y. Xue et al.   SCIENCE

Stable recombination hotspots in birds

(2015) S. Singhal et al.   SCIENCE

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots

(2015) Christopher L. Baker et al.   PLoS Genetics

An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans

(2015) Ziyue Gao et al.   GENETICS

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

Using latent class analysis to develop a model of the relationship between socioeconomic position and ethnicity: cross-sectional analyses from a multi-ethnic birth cohort study

(2014) Lesley Fairley et al.   BMC PUBLIC HEALTH

Joint Variant and De Novo Mutation Identification on Pedigrees from High-Throughput Sequencing Data

(2014) John G. Cleary et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Ensembl 2015

(2014) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

Recombination initiation maps of individual human genomes

(2014) F. Pratto et al.   SCIENCE

GP funding formula masks major inequalities for practices in deprived areas

(2014) K. Boomla et al.   BMJ-British Medical Journal

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Implications of comorbidity for primary care costs in the UK: a retrospective observational study

(2013) Samuel L Brilleman et al.   BRITISH JOURNAL OF GENERAL PRACTICE

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

(2013) Eamonn Sheridan et al.   LANCET

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

(2013) Jason Flannick et al.   NATURE GENETICS

Meiotic recombination in mammals: localization and regulation

(2013) Frédéric Baudat et al.   NATURE REVIEWS GENETICS

Genetic Recombination Is Targeted towards Gene Promoter Regions in Dogs

(2013) Adam Auton et al.   PLoS Genetics

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cohort Profile: The Born in Bradford multi-ethnic family cohort study

(2012) J. Wright et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genetic recombination is directed away from functional genomic elements in mice

(2012) Kevin Brick et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Replication of 13 genome-wide association (GWA)-validated risk variants for type 2 diabetes in Pakistani populations

(2011) S. D. Rees et al.   DIABETOLOGIA

Natural genetic variation caused by small insertions and deletions in the human genome

(2011) R. E. Mills et al.   GENOME RESEARCH

Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome

(2011) E. Axelsson et al.   GENOME RESEARCH

Combining Global and Local Measures for Structure-Based Druggability Predictions

(2011) Andrea Volkamer et al.   Journal of Chemical Information and Modeling

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

Prdm9 Controls Activation of Mammalian Recombination Hotspots

(2010) E. D. Parvanov et al.   SCIENCE

Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination

(2010) S. Myers et al.   SCIENCE

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

Born in Bradford, a cohort study of babies born in Bradford, and their parents: Protocol for the recruitment phase

(2008) Pauline Raynor et al.   BMC PUBLIC HEALTH

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

A common sequence motif associated with recombination hot spots and genome instability in humans

(2008) Simon Myers et al.   NATURE GENETICS

Null mutations in human and mouse orthologs frequently result in different phenotypes

(2008) B.-Y. Liao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High-Resolution Mapping of Crossovers Reveals Extensive Variation in Fine-Scale Recombination Patterns Among Humans

(2008) G. Coop et al.   SCIENCE