Canvas SPW: calling de novo copy number variants in pedigrees | Zendy

Sergii Ivakhno | Zendy; Eric Roller | Zendy; Camilla Colombo | Zendy; Philip Tedder | Zendy; Anthony J. Cox | Zendy

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Canvas SPW: calling de novo copy number variants in pedigrees

Author(s) -

Sergii Ivakhno,

Eric Roller,

Camilla Colombo,

Philip Tedder,

Anthony J. Cox

Publication year - 2017

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/btx618

Subject(s) - pedigree chart , identification (biology) , computational biology , genetics , biology , copy number variation , sequence assembly , breakpoint , genome , computer science , gene , chromosomal translocation , gene expression , botany , transcriptome

Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure.

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