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Pangenome Graphs.
Eizenga, Jordan M; Novak, Adam M; Sibbesen, Jonas A; Heumos, Simon; Ghaffaari, Ali; Hickey, Glenn; Chang, Xian; Seaman, Josiah D; Rounthwaite, Robin; Ebler, Jana; Rautiainen, Mikko; Garg, Shilpa; Paten, Benedict; Marschall, Tobias; Sirén, Jouni; Garrison, Erik.
Afiliação
  • Eizenga JM; Genomics Institute, University of California, Santa Cruz, California 95064, USA; email: erik.garrison@ucsc.edu.
  • Novak AM; Genomics Institute, University of California, Santa Cruz, California 95064, USA; email: erik.garrison@ucsc.edu.
  • Sibbesen JA; Genomics Institute, University of California, Santa Cruz, California 95064, USA; email: erik.garrison@ucsc.edu.
  • Heumos S; Quantitative Biology Center, University of Tübingen, 72076 Tübingen, Germany.
  • Ghaffaari A; Center for Bioinformatics, Saarland University, 66123 Saarbrücken, Germany.
  • Hickey G; Max Planck Institute for Informatics, 66123 Saarbrücken, Germany.
  • Chang X; Saarbrücken Graduate School for Computer Science, Saarland University, 66123 Saarbrücken, Germany.
  • Seaman JD; Genomics Institute, University of California, Santa Cruz, California 95064, USA; email: erik.garrison@ucsc.edu.
  • Rounthwaite R; Genomics Institute, University of California, Santa Cruz, California 95064, USA; email: erik.garrison@ucsc.edu.
  • Ebler J; Royal Botanic Gardens, Kew, Richmond TW9 3AB, United Kingdom.
  • Rautiainen M; School of Biological and Chemical Sciences, Queen Mary University of London, London E1 4NS, United Kingdom.
  • Garg S; Genomics Institute, University of California, Santa Cruz, California 95064, USA; email: erik.garrison@ucsc.edu.
  • Paten B; Center for Bioinformatics, Saarland University, 66123 Saarbrücken, Germany.
  • Marschall T; Max Planck Institute for Informatics, 66123 Saarbrücken, Germany.
  • Sirén J; Saarbrücken Graduate School for Computer Science, Saarland University, 66123 Saarbrücken, Germany.
  • Garrison E; Center for Bioinformatics, Saarland University, 66123 Saarbrücken, Germany.
Annu Rev Genomics Hum Genet ; 21: 139-162, 2020 08 31.
Article em En | MEDLINE | ID: mdl-32453966
Low-cost whole-genome assembly has enabled the collection of haplotype-resolved pangenomes for numerous organisms. In turn, this technological change is encouraging the development of methods that can precisely address the sequence and variation described in large collections of related genomes. These approaches often use graphical models of the pangenome to support algorithms for sequence alignment, visualization, functional genomics, and association studies. The additional information provided to these methods by the pangenome allows them to achieve superior performance on a variety of bioinformatic tasks, including read alignment, variant calling, and genotyping. Pangenome graphs stand to become a ubiquitous tool in genomics. Although it is unclear whether they will replace linearreference genomes, their ability to harmoniously relate multiple sequence and coordinate systems will make them useful irrespective of which pangenomic models become most common in the future.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Algoritmos / Gráficos por Computador / Genoma Humano / Biologia Computacional Limite: Humans Idioma: En Revista: Annu Rev Genomics Hum Genet Assunto da revista: GENETICA / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Algoritmos / Gráficos por Computador / Genoma Humano / Biologia Computacional Limite: Humans Idioma: En Revista: Annu Rev Genomics Hum Genet Assunto da revista: GENETICA / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article