Kaviar: an accessible system for testing SNV novelty

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

ENGINES: exploring single nucleotide variation in entire human genomes

(2011) Jorge Amigo et al.   BMC BIOINFORMATICS

PanSNPdb: The Pan-Asian SNP Genotyping Database

(2011) Chumpol Ngamphiw et al.   PLoS One

SeqAnt: A web service to rapidly identify and annotate DNA sequence variations

(2010) Amol Shetty et al.   BMC BIOINFORMATICS

Complete Khoisan and Bantu genomes from southern Africa

(2010) Stephan C. Schuster et al.   NATURE

Ancient human genome sequence of an extinct Palaeo-Eskimo

(2010) Morten Rasmussen et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

The Characterization of Twenty Sequenced Human Genomes

(2010) Kimberly Pelak et al.   PLoS Genetics

A standard variation file format for human genome sequences

(2010) Martin G Reese et al.   GENOME BIOLOGY

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Sex-specific and lineage-specific alternative splicing in primates

(2009) R. Blekhman et al.   GENOME RESEARCH

dbSNP in the detail and copy number complexities

(2009) Ian N.M. Day   HUMAN MUTATION

Systems medicine: the future of medical genomics and healthcare

(2009) Charles Auffray et al.   Genome Medicine

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE