4.7 Article

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Exome sequencing: Dual role as a discovery and diagnostic tool

Chee-Seng Ku et al.

ANNALS OF NEUROLOGY (2012)

Article Biochemistry & Molecular Biology

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

Daniel C. Koboldt et al.

GENOME RESEARCH (2012)

Article Medicine, General & Internal

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Biochemistry & Molecular Biology

Summarizing and correcting the GC content bias in high-throughput sequencing

Yuval Benjamini et al.

NUCLEIC ACIDS RESEARCH (2012)

Article Multidisciplinary Sciences

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen et al.

SCIENCE (2012)

Article Biochemical Research Methods

Comparative analysis of algorithms for next-generation sequencing read alignment

Matthew Ruffalo et al.

BIOINFORMATICS (2011)

Article Biochemical Research Methods

The variant call format and VCFtools

Petr Danecek et al.

BIOINFORMATICS (2011)

Article Biochemical Research Methods

A novel and well-defined benchmarking method for second generation read mapping

Manuel Holtgrewe et al.

BMC BIOINFORMATICS (2011)

Article Genetics & Heredity

Technology-specific error signatures in the 1000 Genomes Project data

Michael Nothnagel et al.

HUMAN GENETICS (2011)

Article Biotechnology & Applied Microbiology

Performance comparison of exome DNA sequencing technologies

Michael J. Clark et al.

NATURE BIOTECHNOLOGY (2011)

Review Genetics & Heredity

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J. Bamshad et al.

NATURE REVIEWS GENETICS (2011)

Article Biotechnology & Applied Microbiology

Comparison of solution-based exome capture methods for next generation sequencing

Anna-Maija Sulonen et al.

GENOME BIOLOGY (2011)

Article Biotechnology & Applied Microbiology

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

Matthew N. Bainbridge et al.

GENOME BIOLOGY (2011)

Article Biochemical Research Methods

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

Rodrigo Goya et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Genetics & Heredity

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Peter N. Robinson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Next-Generation DNA Sequencing Methods

Elaine R. Mardis

Annual Review of Genomics and Human Genetics (2008)

Article Biochemistry & Molecular Biology

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

Heng Li et al.

GENOME RESEARCH (2008)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)