SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Abstract Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to sequencing technology limitations. Long-read sequencing enables comprehensive detection of SVs, but approaches for prioritization of candidate SVs are needed...

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Main Authors: Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley, Peter N. Robinson
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2022-04-01
Colecção:Genome Medicine
Assuntos:
Long-read sequencing
Whole genome sequencing
Structural variant
Acesso em linha:https://doi.org/10.1186/s13073-022-01046-6
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