Timing, rates and spectra of human germline mutation

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel de novo heterozygousFGFR1mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

(2014) Radhika Dhamija et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Strong male bias drives germline mutation in chimpanzees

(2014) O. Venn et al.   SCIENCE

The Paternal Age Effect: A Multifaceted Phenomenon

(2013) Jamila R. Momand et al.   BIOLOGY OF REPRODUCTION

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

(2013) S. Anazi et al.   CLINICAL GENETICS

Germline mosaicism in Rubinstein–Taybi syndrome

(2013) Mariam Tajir et al.   GENE

The influence of genomic context on mutation patterns in the human genome inferred from rare variants

(2013) V. M. Schaibley et al.   GENOME RESEARCH

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism

(2013) Tiziana Bachetti et al.   PEDIATRIC PULMONOLOGY

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Properties and rates of germline mutations in humans

(2013) Catarina D. Campbell et al.   TRENDS IN GENETICS

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

(2012) Jianbin Wang et al.   CELL

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

(2012) Jacob J. Michaelson et al.   CELL

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012) Augustine Kong et al.   NATURE

Revising the human mutation rate: implications for understanding human evolution

(2012) Aylwyn Scally et al.   NATURE REVIEWS GENETICS

Genome analyses substantiate male mutation bias in many species

(2011) Melissa A. Wilson Sayres et al.   BIOESSAYS

The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements

(2011) T. Voet et al.   CYTOGENETIC AND GENOME RESEARCH

DO VARIATIONS IN SUBSTITUTION RATES AND MALE MUTATION BIAS CORRELATE WITH LIFE-HISTORY TRAITS? A STUDY OF 32 MAMMALIAN GENOMES

(2011) Melissa A. Wilson Sayres et al.   EVOLUTION

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

(2011) Donald F Conrad et al.   NATURE GENETICS

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes

(2009) Laurent Duret et al.   Annual Review of Genomics and Human Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS