The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

(2011) PN Robinson et al.   CLINICAL GENETICS

Technology-specific error signatures in the 1000 Genomes Project data

(2011) Michael Nothnagel et al.   HUMAN GENETICS

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Microindel detection in short-read sequence data

(2010) Peter Krawitz et al.   BIOINFORMATICS

SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors

(2010) Rodrigo Goya et al.   BIOINFORMATICS

Nanopore Sequencing: Electrical Measurements of the Code of Life

(2010) Winston Timp et al.   IEEE TRANSACTIONS ON NANOTECHNOLOGY

Relative frequencies in multitype branching processes

(2009) Andrei Y. Yakovlev et al.   ANNALS OF APPLIED PROBABILITY

Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data

(2009) Jacob F. Degner et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(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

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

Evaluation of next generation sequencing platforms for population targeted sequencing studies

(2009) Olivier Harismendy et al.   GENOME BIOLOGY

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE