Mark A. DePristo - Researcher Profile

Publications

4 shown

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

Monkol Lek , Konrad J. Karczewski , Eric Vallabh Minikel +76 more

2016 Nature 10077 citations

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

Kaitlin E. Samocha , Elise Robinson , Stephan Sanders +23 more

2014 Nature Genetics 1091 citations

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

Gonçalo R. Abecasis , Adam Auton , Lisa Brooks +6 more

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribu...

2012 Nature 8104 citations

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

Donald F. Conrad , Jonathan Keebler , Mark A. DePristo +14 more

2011 Nature Genetics 602 citations

Frequent Co-Authors

Researcher Info

h-index: 4
Publications: 4
Citations: 19,874
Institution: Broad Institute

External Links

Google Scholar

Impact Metrics

h-index 4

h-index: Number of publications with at least h citations each.