4.6 Article

Estimation of Copy Number Alterations from Exome Sequencing Data

Related references

Note: Only part of the references are listed.
Article Biochemical Research Methods

CONTRA: copy number analysis for targeted resequencing

Jason Li et al.

BIOINFORMATICS (2012)

Article Biochemistry & Molecular Biology

Copy number variation detection and genotyping from exome sequence data

Niklas Krumm et al.

GENOME RESEARCH (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 Genetics & Heredity

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

Xose S. Puente et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Biochemical Research Methods

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

Jarupon Fah Sathirapongsasuti et al.

BIOINFORMATICS (2011)

Article Biochemistry & Molecular Biology

Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors

Christiane M. Robbins et al.

GENOME RESEARCH (2011)

Article Medicine, General & Internal

Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML

Daniel C. Link et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)

Article Multidisciplinary Sciences

Initial genome sequencing and analysis of multiple myeloma

Michael A. Chapman et al.

NATURE (2011)

Article Multidisciplinary Sciences

Integrated genomic analyses of ovarian carcinoma

D. Bell et al.

NATURE (2011)

Article Multidisciplinary Sciences

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

Xose S. Puente et al.

NATURE (2011)

Review Biotechnology & Applied Microbiology

Unlocking Mendelian disease using exome sequencing

Christian Gilissen et al.

GENOME BIOLOGY (2011)

Article Biochemical Research Methods

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

An Integrated Approach to Uncover Drivers of Cancer

Uri David Akavia et al.

Review Biochemistry & Molecular Biology

miR-15a and miR-16-1 in cancer: discovery, function and future perspectives

R. I. Aqeilan et al.

CELL DEATH AND DIFFERENTIATION (2010)

Review Genetics & Heredity

Copy number variants at Williams-Beuren syndrome 7q11.23 region

Giuseppe Merla et al.

HUMAN GENETICS (2010)

Article Multidisciplinary Sciences

A small-cell lung cancer genome with complex signatures of tobacco exposure

Erin D. Pleasance et al.

NATURE (2010)

Article Multidisciplinary Sciences

A comprehensive catalogue of somatic mutations from a human cancer genome

Erin D. Pleasance et al.

NATURE (2010)

Article Multidisciplinary Sciences

The landscape of somatic copy-number alteration across human cancers

Rameen Beroukhim et al.

NATURE (2010)

Article Multidisciplinary Sciences

International network of cancer genome projects

Thomas J. Hudson et al.

NATURE (2010)

Article Genetics & Heredity

Exome sequencing identifies the cause of a mendelian disorder

Sarah B. Ng et al.

NATURE GENETICS (2010)

Review Genetics & Heredity

Advances in understanding cancer genomes through second-generation sequencing

Matthew Meyerson et al.

NATURE REVIEWS GENETICS (2010)

Article Medicine, General & Internal

DNMT3A Mutations in Acute Myeloid Leukemia.

Timothy J. Ley et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Medicine, General & Internal

Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.

James R. Lupski et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Multidisciplinary Sciences

Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

J. William Harbour et al.

SCIENCE (2010)

Article Multidisciplinary Sciences

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Jared C. Roach et al.

SCIENCE (2010)

Editorial Material Clinical Neurology

Genome sequencing reveals Charcot-Marie-Tooth disease mutation

[Anonymous]

FUTURE NEUROLOGY (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemistry & Molecular Biology

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Heather C. Mefford et al.

GENOME RESEARCH (2009)

Article Multidisciplinary Sciences

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah B. Ng et al.

NATURE (2009)

Review Multidisciplinary Sciences

The cancer genome

Michael R. Stratton et al.

NATURE (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 Medicine, General & Internal

Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

Elaine R. Mardis et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Multidisciplinary Sciences

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

Timothy J. Ley et al.

NATURE (2008)

Article Biochemical Research Methods

Mapping and quantifying mammalian transcriptomes by RNA-Seq

Ali Mortazavi et al.

NATURE METHODS (2008)

Article Biochemical Research Methods

A faster circular binary segmentation algorithm for the analysis of array CGH data

E. S. Venkatraman et al.

BIOINFORMATICS (2007)