On the frequency of copy number variants | Zendy

Iuliana IonitaLaza | Zendy; Nan M. Laird | Zendy; Benjamin A. Raby | Zendy; Scott T. Weiss | Zendy; Christoph Lange | Zendy

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On the frequency of copy number variants

Author(s) -

Iuliana IonitaLaza,

Nan M. Laird,

Benjamin A. Raby,

Scott T. Weiss,

Christoph Lange

Publication year - 2008

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btn421

Subject(s) - copy number variation , computer science , false positive paradox , spurious relationship , mendelian inheritance , frequency distribution , statistics , genetics , biology , artificial intelligence , mathematics , machine learning , genome , gene

Estimating the frequency distribution of copy number variants (CNVs) is an important aspect of the effort to characterize this new type of genetic variation. Currently, most studies report a strong skew toward low-frequency CNVs. In this article, our goal is to investigate the frequencies of CNVs. We employ a two-step procedure for the CNV frequency estimation process. We use family information a posteriori to select only the most reliable CNV regions, i.e. those showing high rates of Mendelian transmission.

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