Reduced reproductive success is associated with selective constraint on human genes

Genetic predictors of participation in optional components of UK Biobank

(2021) Jessica Tyrrell et al.   Nature Communications

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

(2021) Philipp Rentzsch et al.   Genome Medicine

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

SciPy 1.0: fundamental algorithms for scientific computing in Python

(2020) Pauli Virtanen et al.   NATURE METHODS

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Causal Genetic Variants in Stillbirth

(2020) Kate E. Stanley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evidence for 28 genetic disorders discovered by combining healthcare and research data

(2020) Joanna Kaplanis et al.   NATURE

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations

(2020) Juba Nait Saada et al.   Nature Communications

A systematic review and standardized clinical validity assessment of male infertility genes

(2019) Manon S Oud et al.   HUMAN REPRODUCTION

Applicability of the Mutation–Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans

(2019) Donate Weghorn et al.   MOLECULAR BIOLOGY AND EVOLUTION

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

(2018) Andrea Ganna et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

(2018) Guillaume Huguet et al.   JAMA Psychiatry

Mate Preferences and Their Behavioral Manifestations

(2018) David M. Buss et al.   Annual Review of Psychology

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank

(2018) Karen Crawford et al.   JOURNAL OF MEDICAL GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Mouse Genome Database (MGD) 2019

(2018) Carol J Bult et al.   NUCLEIC ACIDS RESEARCH

Sexual dimorphism in the genetic influence on human childlessness

(2017) Renske M Verweij et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Efficiency and safety of varying the frequency of whole blood donation (INTERVAL): a randomised trial of 45 000 donors

(2017) Emanuele Di Angelantonio et al.   LANCET

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

(2017) Christopher A Cassa et al.   NATURE GENETICS

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

New quality measure for SNP array based CNV detection

(2016) A. Macé et al.   BIOINFORMATICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

(2016) Nicola Barban et al.   NATURE GENETICS

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

(2016) Andrea Ganna et al.   NATURE NEUROSCIENCE

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

(2015) Katrin Männik et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Ensembl Genomes 2016: more genomes, more complexity

(2015) Paul Julian Kersey et al.   NUCLEIC ACIDS RESEARCH

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

CANOES: detecting rare copy number variants from whole exome sequencing data

(2014) Daniel Backenroth et al.   NUCLEIC ACIDS RESEARCH

CrossMap: a versatile tool for coordinate conversion between genome assemblies

(2013) Hao Zhao et al.   BIOINFORMATICS

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

(2013) Alexandra M. Lopes et al.   PLoS Genetics

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Childlessness drives the sex difference in the association between income and reproductive success of modern Europeans

(2012) Julia A. Barthold et al.   EVOLUTION AND HUMAN BEHAVIOR

Means, variances, and ranges in reproductive success: comparative evidence

(2012) Laura Betzig   EVOLUTION AND HUMAN BEHAVIOR

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings

(2012) Robert A. Power et al.   JAMA Psychiatry

Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions

(2011) G. Costain et al.   JOURNAL OF MEDICAL GENETICS

Natural Selection on Male Wealth in Humans

(2008) Daniel Nettle et al.   AMERICAN NATURALIST