A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

(2011) Alan F. Rope et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving SNP discovery by base alignment quality

(2011) H. Li   BIOINFORMATICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Identification of evolutionarily conserved non-AUG-initiated N-terminal extensions in human coding sequences

(2011) Ivaylo P. Ivanov et al.   NUCLEIC ACIDS RESEARCH

First Steps on a Long Road

(2011) E. Schadt   SCIENCE

Third Generation DNA Sequencing: Pacific Biosciences' Single Molecule Real Time Technology

(2010) Alice McCarthy   CHEMISTRY & BIOLOGY

Massively parallel resequencing of the isogenicDrosophila melanogasterstrain w1118; iso-2; iso-3 identifies hotspots for mutations in sensory perception genes

(2010) Adrian Platts et al.   FLY

Cyclin Y Is a Novel Conserved Cyclin Essential for Development in Drosophila

(2010) D. Liu et al.   GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

THE LOCATION OF A NEW SECOND CHROMOSOME EYE COLOUR GENE IN DROSOPHILA MELANOGASTER

(2010) GEORG H. M. WAALER   HEREDITAS

The Positive Correlation between dN/dS and dS in Mammals Is Due to Runs of Adjacent Substitutions

(2010) Nina Stoletzki et al.   MOLECULAR BIOLOGY AND EVOLUTION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

(2009) Kevin M. Flanigan et al.   NEUROMUSCULAR DISORDERS

The EDGE hypothesis: Epigenetically directed genetic errors in repeat-containing proteins (RCPs) involved in evolution, neuroendocrine signaling, and cancer

(2008) Douglas M. Ruden et al.   FRONTIERS IN NEUROENDOCRINOLOGY

Molecular Population Genetics and Evolution of Drosophila Meiosis Genes

(2008) J. A. Anderson et al.   GENETICS

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Prion Switching in Response to Environmental Stress

(2008) Jens Tyedmers et al.   PLOS BIOLOGY