Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

(2010) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complete Khoisan and Bantu genomes from southern Africa

(2010) Stephan C. Schuster et al.   NATURE

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole exome capture in solution with 3 Gbp of data

(2010) Matthew N Bainbridge et al.   GENOME BIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

(2009) K. J. McKernan et al.   GENOME RESEARCH

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Human DNA methylomes at base resolution show widespread epigenomic differences

(2009) Ryan Lister et al.   NATURE

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

BFAST: An Alignment Tool for Large Scale Genome Resequencing

(2009) Nils Homer et al.   PLoS One

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

(2008) J. C. Dohm et al.   NUCLEIC ACIDS RESEARCH