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Copy number variant analysis using genome-wide mate-pair sequencing

Published:2018-07-30 Issue:9 Volume:57 Page:459-470
ISSN:1045-2257
Container-title:Genes, Chromosomes and Cancer
language:en
Short-container-title:Genes Chromosomes Cancer

Author:

Smadbeck James B.¹^ORCID,Johnson Sarah H.¹,Smoley Stephanie A.²,Gaitatzes Athanasios³,Drucker Travis M.³,Zenka Roman M.³,Kosari Farhad¹,Murphy Stephen J.¹,Hoppman Nicole²,Aypar Umut²,Sukov William R.²,Jenkins Robert B.²,Kearney Hutton M.²,Feldman Andrew L.²,Vasmatzis George¹⁴

Affiliation:

1. Center for Individualized Medicine - Biomarker Discovery; Mayo Clinic; Rochester Minnesota

2. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota

3. Bioinformatics Systems; Mayo Clinic; Rochester Minnesota

4. Department of Molecular Medicine; Mayo Clinic; Rochester Minnesota

Funder

Mayo Clinic Center for Individualized Medicine (CIM)

National Cancer Institute

Publisher

Wiley

Subject

Cancer Research,Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/gcc.5/fullpdf

Reference26 articles.

1. Mutational landscape and significance across 12 major cancer types;Kandoth;Nature.,2013

2. Identification of large-scale genomic variation in cancer genomes using in silico reference models;Killcoyne;Nucleic Acids Res.,2016

3. Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads;Moncunill;Nat Biotech.,2014

4. Somatic structural variation and cancer;Tubio;Brief Funct Genom.,2015

5. Diverse mechanisms of somatic structural variations in human cancer genomes;Yang;Cell.,2013

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1. An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia;Biomedicines;2024-03-07

2. Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation;Case Reports in Genetics;2024-01-30

3. Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2023-02

4. Optimization of the “in‐silico” mate‐pair method improves contiguity and accuracy of genome assembly;Ecology and Evolution;2023-01

5. Mate Pair Sequencing: Next-Generation Sequencing for Structural Variant Detection;Methods in Molecular Biology;2023

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