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Variant interpretation: UCSC Genome Browser Recommended Track Sets.
Benet-Pagès, Anna; Rosenbloom, Kate R; Nassar, Luis R; Lee, Christopher M; Raney, Brian J; Clawson, Hiram; Schmelter, Daniel; Casper, Jonathan; Gonzalez, Jairo Navarro; Perez, Gerardo; Lee, Brian T; Zweig, Ann S; Kent, W James; Haeussler, Maximillian; Kuhn, Robert M.
Afiliação
  • Benet-Pagès A; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Rosenbloom KR; Medical Genetics Center (MGZ), Munich, Germany.
  • Nassar LR; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Lee CM; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Raney BJ; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Clawson H; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Schmelter D; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Casper J; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Gonzalez JN; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Perez G; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Lee BT; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Zweig AS; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Kent WJ; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Haeussler M; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
  • Kuhn RM; Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.
Hum Mutat ; 43(8): 998-1011, 2022 08.
Article em En | MEDLINE | ID: mdl-35088925
ABSTRACT
The UCSC Genome Browser has been an important tool for genomics and clinical genetics since the sequence of the human genome was first released in 2000. As it has grown in scope to display more types of data it has also grown more complicated. The data, which are dispersed at many locations worldwide, are collected into one view on the Browser, where the graphical interface presents the data in one location. This supports the expertise of the researcher to interpret variants in the genome. Because the analysis of single nucleotide variants and copy number variants require interpretation of data at very different genomic scales, different data resources are required. We present here several Recommended Track Sets designed to facilitate the interpretation of variants in the clinic, offering quick access to datasets relevant to the appropriate scale.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Bases de Dados Genéticas Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Software / Bases de Dados Genéticas Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article