Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Integrating Genomics into Healthcare: A Global Responsibility

(2019) Zornitza Stark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data

(2018) Waqasuddin Khan et al.   BIOINFORMATICS

PICKLES: the database of pooled in-vitro CRISPR knockout library essentiality screens

(2017) Walter F Lenoir et al.   NUCLEIC ACIDS RESEARCH

Accurately annotate compound effects of genetic variants using a context-sensitive framework

(2017) Si-Jin Cheng et al.   NUCLEIC ACIDS RESEARCH

A framework for the detection of de novo mutations in family-based sequencing data

(2016) Laurent C Francioli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2016) Monkol Lek et al.   NATURE

An expanded sequence context model broadly explains variability in polymorphism levels across the human genome

(2016) Varun Aggarwala et al.   NATURE GENETICS

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research

(2016) Zhongwu Lai et al.   NUCLEIC ACIDS RESEARCH

Multi-nucleotide de novo Mutations in Humans

(2016) Søren Besenbacher et al.   PLoS Genetics

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clusters of Multiple Mutations: Incidence and Molecular Mechanisms

(2015) Kin Chan et al.   Annual Review of Genetics

MAC: identifying and correcting annotation for multi-nucleotide variations

(2015) Lei Wei et al.   BMC GENOMICS

High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities

(2015) Traver Hart et al.   CELL

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

ClinGen — The Clinical Genome Resource

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

Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes

(2015) Albino Bacolla et al.   NUCLEIC ACIDS RESEARCH

Evidence for recent, population-specific evolution of the human mutation rate

(2015) Kelley Harris   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Determinants of Mutation Rate Variation in the Human Germline

(2014) Laure Ségurel et al.   Annual Review of Genomics and Human Genetics

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

(2014) Heng Li   BIOINFORMATICS

Error-prone polymerase activity causes multinucleotide mutations in humans

(2014) Kelley Harris et al.   GENOME RESEARCH

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Microsatellite Interruptions Stabilize Primate Genomes and Exist as Population-Specific Single Nucleotide Polymorphisms within Individual Human Genomes

(2014) Guruprasad Ananda et al.   PLoS Genetics

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

(2013) S. B. Montgomery et al.   GENOME RESEARCH

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers

(2013) Steven A Roberts et al.   NATURE GENETICS

DNA polymerases ζ and Rev1 mediate error-prone bypass of non-B DNA structures

(2013) Matthew R. Northam et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

DNA polymerase zeta generates clustered mutations during bypass of endogenous DNA lesions inSaccharomyces cerevisiae

(2012) Jana E. Stone et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Distant Activation of Transcription: Mechanisms of Enhancer Action

(2012) O. I. Kulaeva et al.   MOLECULAR AND CELLULAR BIOLOGY

Pervasive Multinucleotide Mutational Events in Eukaryotes

(2011) Daniel R. Schrider et al.   CURRENT BIOLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

DNA Slippage Occurs at Microsatellite Loci without Minimal Threshold Length in Humans: A Comparative Genomic Approach

(2010) S. Leclercq et al.   Genome Biology and Evolution

Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing

(2010) Jeffrey A. Rosenfeld et al.   NUCLEIC ACIDS RESEARCH

Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree

(2009) Yali Xue et al.   CURRENT BIOLOGY

Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes

(2009) Jian-Min Chen et al.   HUMAN MUTATION

Mutation Patterns in the Human Genome: More Variable Than Expected

(2009) Laurent Duret   PLOS BIOLOGY