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Is it time to change the reference genome?
Ballouz, Sara; Dobin, Alexander; Gillis, Jesse A.
Afiliação
  • Ballouz S; Cold Spring Harbor Laboratory, The Stanley Institute for Cognitive Genomics, Cold Spring Harbor, NY, 11724, USA.
  • Dobin A; Cold Spring Harbor Laboratory, The Stanley Institute for Cognitive Genomics, Cold Spring Harbor, NY, 11724, USA.
  • Gillis JA; Cold Spring Harbor Laboratory, The Stanley Institute for Cognitive Genomics, Cold Spring Harbor, NY, 11724, USA. jgillis@cshl.edu.
Genome Biol ; 20(1): 159, 2019 08 09.
Article em En | MEDLINE | ID: mdl-31399121
The use of the human reference genome has shaped methods and data across modern genomics. This has offered many benefits while creating a few constraints. In the following opinion, we outline the history, properties, and pitfalls of the current human reference genome. In a few illustrative analyses, we focus on its use for variant-calling, highlighting its nearness to a 'type specimen'. We suggest that switching to a consensus reference would offer important advantages over the continued use of the current reference with few disadvantages.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genômica Limite: Humans Idioma: En Revista: Genome Biol Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genômica Limite: Humans Idioma: En Revista: Genome Biol Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos