4.4 Article

A new approach for detecting low-level mutations in next-generation sequence data

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Ultrasensitive detection of rare mutations using next-generation targeted resequencing

Patrick Flaherty et al.

NUCLEIC ACIDS RESEARCH (2012)

Article Biochemistry & Molecular Biology

Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

Martin Kircher et al.

NUCLEIC ACIDS RESEARCH (2012)

Article Biochemical Research Methods

Identification and correction of systematic error in high-throughput sequence data

Frazer Meacham et al.

BMC BIOINFORMATICS (2011)

Article Biochemical Research Methods

Base-calling for next-generation sequencing platforms

Christian Ledergerber et al.

BRIEFINGS IN BIOINFORMATICS (2011)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Review Genetics & Heredity

Genotype and SNP calling from next-generation sequencing data

Rasmus Nielsen et al.

NATURE REVIEWS GENETICS (2011)

Article Biochemistry & Molecular Biology

Sequence-specific error profile of Illumina sequencers

Kensuke Nakamura et al.

NUCLEIC ACIDS RESEARCH (2011)

Article Multidisciplinary Sciences

Detection and quantification of rare mutations with massively parallel sequencing

Isaac Kinde et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Biotechnology & Applied Microbiology

Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study

Hiroki Goto et al.

GENOME BIOLOGY (2011)

Article Biotechnology & Applied Microbiology

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

Andre E. Minoche et al.

GENOME BIOLOGY (2011)

Article Genetics & Heredity

Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes

Mingkun Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

High-throughput DNA sequencing - concepts and limitations

Martin Kircher et al.

BIOESSAYS (2010)

Article Biochemistry & Molecular Biology

High-throughput discovery of rare insertions and deletions in large cohorts

Francesco L. M. Vallania et al.

GENOME RESEARCH (2010)

Article Biochemistry & Molecular Biology

Accurate detection and genotyping of SNPs utilizing population sequencing data

Vikas Bansal et al.

GENOME RESEARCH (2010)

Article Multidisciplinary Sciences

Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

Yiping He et al.

NATURE (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Article Biochemical Research Methods

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

Daniel C. Koboldt et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Genetics & Heredity

Updated Comprehensive Phylogenetic Tree of Global Human Mitochondrial DNA Variation

Mannis van Oven et al.

HUMAN MUTATION (2009)

Article Biochemical Research Methods

Quantification of rare allelic variants from pooled genomic DNA

Todd E. Druley et al.

NATURE METHODS (2009)

Article Biotechnology & Applied Microbiology

Improved base calling for the Illumina Genome Analyzer using machine learning strategies

Martin Kircher et al.

GENOME BIOLOGY (2009)

Article Biotechnology & Applied Microbiology

Evaluation of next generation sequencing platforms for population targeted sequencing studies

Olivier Harismendy et al.

GENOME BIOLOGY (2009)

Article Biochemistry & Molecular Biology

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

Heng Li et al.

GENOME RESEARCH (2008)

Article Biochemical Research Methods

Identification of genetic variants using bar-coded multiplexed sequencing

David W. Craig et al.

NATURE METHODS (2008)

Article Biochemical Research Methods

SNP discovery and allele frequency estimation by deep sequencing of reduced representation libraries

Curtis P. Van Tassell et al.

NATURE METHODS (2008)

Article Biochemistry & Molecular Biology

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

Juliane C. Dohm et al.

NUCLEIC ACIDS RESEARCH (2008)

Article Biochemistry & Molecular Biology

WebLogo: A sequence logo generator

GE Crooks et al.

GENOME RESEARCH (2004)