Title | Integrative DNA copy number detection and genotyping from sequencing and array-based platforms. |
Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | Zhou Z, Wang W, San Wang L-, Zhang NRuonan |
Journal | Bioinformatics |
Volume | 34 |
Issue | 14 |
Pagination | 2349-2355 |
Date Published | 2018 07 15 |
ISSN | 1367-4811 |
Keywords | Algorithms, Alleles, DNA Copy Number Variations, Genomics, Humans, Polymorphism, Single Nucleotide, Software, Whole Genome Sequencing |
Abstract | Motivation: Copy number variations (CNVs) are gains and losses of DNA segments and have been associated with disease. Many large-scale genetic association studies are performing CNV analysis using whole exome sequencing (WES) and whole genome sequencing (WGS). In many of these studies, previous single-nucleotide polymorphism (SNP)-array data are available. An integrated cross-platform analysis is expected to improve resolution and accuracy, yet there is no tool for effectively combining data from sequencing and array platforms. The detection of CNVs using sequencing data alone can also be further improved by the utilization of allele-specific reads. |
DOI | 10.1093/bioinformatics/bty104 |
Pubmed Link | https://www.ncbi.nlm.nih.gov/pubmed/29992253?dopt=Abstract |
page_expo | External |
Alternate Journal | Bioinformatics |
PubMed ID | 29992253 |
PubMed Central ID | PMC6041760 |
Grant List | P30 AG013854 / AG / NIA NIH HHS / United States P30 AG010124 / AG / NIA NIH HHS / United States U54 AG052427 / AG / NIA NIH HHS / United States R01 HG006137 / HG / NHGRI NIH HHS / United States P50 AG005131 / AG / NIA NIH HHS / United States R01 NS069719 / NS / NINDS NIH HHS / United States P30 AG010133 / AG / NIA NIH HHS / United States U24 AG021886 / AG / NIA NIH HHS / United States P50 AG016574 / AG / NIA NIH HHS / United States P50 AG005146 / AG / NIA NIH HHS / United States U01 AG032984 / AG / NIA NIH HHS / United States P50 AG008702 / AG / NIA NIH HHS / United States UF1 AG047133 / AG / NIA NIH HHS / United States P50 AG005136 / AG / NIA NIH HHS / United States P30 AG012300 / AG / NIA NIH HHS / United States U24 AG041689 / AG / NIA NIH HHS / United States P30 AG008017 / AG / NIA NIH HHS / United States P30 AG010161 / AG / NIA NIH HHS / United States P50 AG025688 / AG / NIA NIH HHS / United States R01 AG041797 / AG / NIA NIH HHS / United States P30 AG028383 / AG / NIA NIH HHS / United States |
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