A statistical method for the detection of variants from next-generation resequencing of DNA pools

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Overlapping pools for high-throughput targeted resequencing

(2009) S. Prabhu et al.   GENOME RESEARCH

Deep sequencing to reveal new variants in pooled DNA samples

(2009) Astrid A. Out et al.   HUMAN MUTATION

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Quantification of rare allelic variants from pooled genomic DNA

(2009) Todd E Druley et al.   NATURE METHODS

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

SHRiMP: Accurate Mapping of Short Color-space Reads

(2009) Stephen M. Rumble et al.   PLoS Computational Biology

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Optimal pooling for genome re-sequencing with ultra-high-throughput short-read technologies

(2008) I. Hajirasouliha et al.   BIOINFORMATICS

SNP frequency estimation using massively parallel sequencing of pooled DNA

(2008) Max Ingman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) H. Li et al.   GENOME RESEARCH

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE

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

Genome resequencing and genetic variation

(2008) Michael Stratton   NATURE BIOTECHNOLOGY

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

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