Exome sequencing: the sweet spot before whole genomes

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

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

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

(2010) Hane Lee et al.   BMC GENOMICS

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

Next generation sequencing in research and diagnostics of ocular birth defects

(2010) Gordana Raca et al.   MOLECULAR GENETICS AND METABOLISM

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

Natural selection on EPAS1 (HIF2 ) associated with low hemoglobin concentration in Tibetan highlanders

(2010) C. M. Beall et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Evidence for High-Altitude Adaptation in Tibet

(2010) T. S. Simonson et al.   SCIENCE

Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude

(2010) X. Yi et al.   SCIENCE

Targeted Investigation of the Neandertal Genome by Array-Based Sequence Capture

(2010) H. A. Burbano et al.   SCIENCE

Whole exome capture in solution with 3 Gbp of data

(2010) Matthew N Bainbridge et al.   GENOME BIOLOGY

IFRD1 Is a Candidate Gene for SMNA on Chromosome 7q22-q23

(2009) Zoran Brkanac et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Methods for Genomic Partitioning

(2009) Emily H. Turner et al.   Annual Review of Genomics and Human Genetics

DNA Sequence Capture and Enrichment by Microarray Followed by Next-Generation Sequencing for Targeted Resequencing: Neurofibromatosis Type 1 Gene as a Model

(2009) L.-S. Chou et al.   CLINICAL CHEMISTRY

High-throughput sequencing of microdissected chromosomal regions

(2009) Anja Weise et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Multiplex padlock targeted sequencing reveals human hypermutable CpG variations

(2009) J. B. Li et al.   GENOME RESEARCH

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

High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing

(2009) E. Hodges et al.   GENOME RESEARCH

Microarray-based multicycle-enrichment of genomic subsets for targeted next-generation sequencing

(2009) D. Summerer et al.   GENOME RESEARCH

Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing

(2009) Daniel Summerer   GENOMICS

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

(2009) Graham A. Heap et al.   HUMAN MOLECULAR GENETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming

(2009) Jie Deng et al.   NATURE BIOTECHNOLOGY

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

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Microdroplet-based PCR enrichment for large-scale targeted sequencing

(2009) Ryan Tewhey et al.   NATURE BIOTECHNOLOGY

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Massively parallel exon capture and library-free resequencing across 16 genomes

(2009) Emily H Turner et al.   NATURE METHODS

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

(2009) Daniel S Herman et al.   NATURE METHODS

Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing

(2009) Emily Hodges et al.   Nature Protocols

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

Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes

(2009) A. W. Briggs et al.   SCIENCE

Genome-Wide Identification of Human RNA Editing Sites by Parallel DNA Capturing and Sequencing

(2009) J. B. Li et al.   SCIENCE

Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts

(2009) Joshua Z Levin et al.   GENOME BIOLOGY

Targeted next-generation sequencing by specific capture of multiple genomic loci using low-volume microfluidic DNA arrays

(2008) Stephan Bau et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Fixing the front end

(2008) Ken Garber   NATURE BIOTECHNOLOGY

A comprehensive assay for targeted multiplex amplification of human DNA sequences

(2008) S. Krishnakumar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses

(2008) S. Jones et al.   SCIENCE