Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

(2017) Hákon Jónsson et al.   NATURE

Do DNA Double-Strand Breaks Drive Aging?

(2016) Ryan R. White et al.   MOLECULAR CELL

Parent-of-origin-specific signatures of de novo mutations

(2016) Jakob M Goldmann et al.   NATURE GENETICS

The rate of meiotic gene conversion varies by sex and age

(2016) Bjarni V Halldorsson et al.   NATURE GENETICS

Loss of BRCA1 or BRCA2 markedly increases the rate of base substitution mutagenesis and has distinct effects on genomic deletions

(2016) J Zámborszky et al.   ONCOGENE

Multi-nucleotide de novo Mutations in Humans

(2016) Søren Besenbacher et al.   PLoS Genetics

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

BRCA Mutations, DNA Repair Deficiency, and Ovarian Aging1

(2015) Kutluk Oktay et al.   BIOLOGY OF REPRODUCTION

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

(2015) Dale L. Bodian et al.   GENETICS IN MEDICINE

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

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

(2015) Christian S Ottolini et al.   NATURE GENETICS

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Crossovers are associated with mutation and biased gene conversion at recombination hotspots

(2015) Barbara Arbeithuber et al.   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

Error-prone polymerase activity causes multinucleotide mutations in humans

(2014) Kelley Harris et al.   GENOME RESEARCH

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21

(2013) C. D. Middlebrooks et al.   HUMAN MOLECULAR GENETICS

Prevalence of Multinucleotide Replacements in Evolution of Primates and Drosophila

(2013) Nadezhda V. Terekhanova et al.   MOLECULAR BIOLOGY AND EVOLUTION

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Impairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans

(2013) S. Titus et al.   Science Translational Medicine

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

(2012) Jacob J. Michaelson et al.   CELL

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data

(2011) Valentina Boeva et al.   BIOINFORMATICS

Pervasive Multinucleotide Mutational Events in Eukaryotes

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

Direct and indirect consequences of meiotic recombination: implications for genome evolution

(2011) Matthew T. Webster et al.   TRENDS IN GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

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

(2010) F. Baudat et al.   SCIENCE