nanotatoR: a tool for enhanced annotation of genomic structural variants.

Bhattacharya, Surajit; Barseghyan, Hayk; Délot, Emmanuèle C; Vilain, Eric

Bhattacharya, Surajit; Barseghyan, Hayk; Délot, Emmanuèle C; Vilain, Eric.

Afiliação

Bhattacharya S; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, 20010, USA.
Barseghyan H; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, 20010, USA.
Délot EC; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC, 20052, USA.
Vilain E; Bionano Genomics Inc, San Diego, CA, 92121, USA.

BMC Genomics ; 22(1): 10, 2021 Jan 06.

Article em En | MEDLINE | ID: mdl-33407088

Assuntos

Genoma Humano; Variação Estrutural do Genoma; Genômica; Humanos; Software; Sequenciamento Completo do Genoma

Palavras-chave

Annotation; Optical genome mapping; Structural variants

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Variação Estrutural do Genoma Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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