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

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

(2015) Laurent C Francioli et al.   NATURE GENETICS

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

(2015) Ece D. Gamsiz et al.   Neurotherapeutics

A Bayesian framework for de novo mutation calling in parents-offspring trios

(2014) Qiang Wei et al.   BIOINFORMATICS

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

(2014) Catherine A Brownstein et al.   GENOME BIOLOGY

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

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

(2012) Jacob J. Michaelson et al.   CELL

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

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

(2012)   NATURE

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

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

(2011) H. Li   BIOINFORMATICS

Assemblathon 1: A competitive assessment of de novo short read assembly methods

(2011) D. Earl et al.   GENOME RESEARCH

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH