Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data

The mutation rate in human evolution and demographic inference

(2016) Aylwyn Scally   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Efficient Coalescent Simulation and Genealogical Analysis for Large Sample Sizes

(2016) Jerome Kelleher et al.   PLoS Computational Biology

Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia

(2015) Asuka Hira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of DNA damage responses and cell cycle progression by hMOB2

(2015) Valenti Gomez et al.   CELLULAR SIGNALLING

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant 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

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

PathCards: multi-source consolidation of human biological pathways

(2015) Frida Belinky et al.   Database-The Journal of Biological Databases and Curation

The genomic landscape of Neanderthal ancestry in present-day humans

(2014) Sriram Sankararaman et al.   NATURE

Resurrecting Surviving Neandertal Lineages from Modern Human Genomes

(2014) B. Vernot et al.   SCIENCE

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers

(2013) Sarah Briggs et al.   JOURNAL OF PATHOLOGY

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

Ensembl 2014

(2013) Paul Flicek 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

Rates and Fitness Consequences of New Mutations in Humans

(2012) Peter D. Keightley   GENETICS

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

(2012) Augustine Kong et al.   NATURE

Analysis of protein dynamics at active, stalled, and collapsed replication forks

(2011) B. M. Sirbu et al.   GENES & DEVELOPMENT

The Lower Bound to the Evolution of Mutation Rates

(2011) Michael Lynch   Genome Biology and Evolution

Inference of human population history from individual whole-genome sequences

(2011) Heng Li et al.   NATURE

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

(2011) Donald F Conrad et al.   NATURE GENETICS

MSMS: a coalescent simulation program including recombination, demographic structure and selection at a single locus

(2010) Gregory Ewing et al.   BIOINFORMATICS

Human HDAC1 and HDAC2 function in the DNA-damage response to promote DNA nonhomologous end-joining

(2010) Kyle M Miller et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) J. C. Roach et al.   SCIENCE

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

Evolution of the mutation rate

(2010) Michael Lynch   TRENDS IN GENETICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH

Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome

(2008) Adam R. Boyko et al.   PLoS Genetics