4.7 Article

Accurate and exact CNV identification from targeted high-throughput sequence data

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Massively Parallel Sequencing of Ataxia Genes after Array-Based Enrichment

Alexander Hoischen et al.

HUMAN MUTATION (2010)

Article Multidisciplinary Sciences

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad et al.

NATURE (2010)

Article Multidisciplinary Sciences

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Tom Walsh et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemistry & Molecular Biology

Mobile elements create structural variation: Analysis of a complete human genome

Jinchuan Xing et al.

GENOME RESEARCH (2009)

Article Biochemistry & Molecular Biology

Sensitive and accurate detection of copy number variants using read depth of coverage

Seungtai Yoon et al.

GENOME RESEARCH (2009)

Article Biotechnology & Applied Microbiology

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Andreas Gnirke et al.

NATURE BIOTECHNOLOGY (2009)

Article Biochemical Research Methods

High-resolution mapping of copy-number alterations with massively parallel sequencing

Derek Y. Chiang et al.

NATURE METHODS (2009)

Review Biochemical Research Methods

Computational methods for discovering structural variation with next-generation sequencing

Paul Medvedev et al.

NATURE METHODS (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 Multidisciplinary Sciences

Accurate whole human genome sequencing using reversible terminator chemistry

David R. Bentley et al.

NATURE (2008)

Article Biochemistry & Molecular Biology

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

Sharon J. Diskin et al.

NUCLEIC ACIDS RESEARCH (2008)

Article Multidisciplinary Sciences

Paired-end mapping reveals extensive structural variation in the human genome

Jan O. Korbel et al.

SCIENCE (2007)