journal cover

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

BMC Bioinformatics

Mar 4, 2017

Yong ChenRui Chen

Abstract

Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy number variations (CNVs) contribute significantly to human genomic variability, some of which can lead to disease. However, effective detection o...read more

Mentioned in this Paper

Size
Bronchioloalveolar Adenocarcinoma
DNA Copy Number Changes
Genome
Likelihood Functions
Array-Based Comparative Genomic Hybridization
Nucleic Acid Sequencing
Computer Programs and Programming
Clone
Genomics
17
1
93
Paper Details
References
  • References11
  • Citations3
12

Related Papers

Journal of Clinical Bioinformatics

Multiple samples aCGH analysis for rare CNVs detection

Journal of Clinical BioinformaticsJune 14, 2013
Maciej SykulskiAnna Gambin
© 2020 Meta ULC. All rights reserved

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

BMC Bioinformatics

Mar 4, 2017

Yong ChenRui Chen

PMID: 28253855

DOI: 10.1186/s12859-017-1566-3

Abstract

Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy number variations (CNVs) contribute significantly to human genomic variability, some of which can lead to disease. However, effective detection o...read more

Mentioned in this Paper

Size
Bronchioloalveolar Adenocarcinoma
DNA Copy Number Changes
Genome
Likelihood Functions
Array-Based Comparative Genomic Hybridization
Nucleic Acid Sequencing
Computer Programs and Programming
Clone
Genomics
17
1
93

Related Papers

Journal of Clinical Bioinformatics

Multiple samples aCGH analysis for rare CNVs detection

Journal of Clinical BioinformaticsJune 14, 2013
Maciej SykulskiAnna Gambin
Paper Details
References
  • References11
  • Citations3
12
/papers/seqcnv-a-novel-method-for-identification-of-copy/28253855