Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

A high-throughput next-generation sequencing-based method for detecting the mutational fingerprint of carcinogens

(2012) Ahmad Besaratinia et al.   NUCLEIC ACIDS RESEARCH

Identification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach

(2011) Michal Mokry et al.   BMC GENOMICS

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

(2011) Melanie A. Jones et al.   GENETICS IN MEDICINE

An integrated semiconductor device enabling non-optical genome sequencing

(2011) Jonathan M. Rothberg et al.   NATURE

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Impact of next generation sequencing: The 2009 Human Genome Variation Society Scientific Meeting

(2010) William S. Oetting   HUMAN MUTATION

A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis

(2010) Lawrence N. Hjelm et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Next-Generation Sequencing: From Basic Research to Diagnostics

(2009) K. V. Voelkerding et al.   CLINICAL CHEMISTRY

Rapid whole-genome mutational profiling using next-generation sequencing technologies

(2008) D. R. Smith et al.   GENOME RESEARCH

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley 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

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE