Extending reference assembly models

Research output: Contribution to journalArticlepeer-review

Authors

  • Deanna M Church
  • Valerie A Schneider
  • Karyn Meltz Steinberg
  • Michael C Schatz
  • Aaron R Quinlan
  • Chen-Shan Chin
  • Paul A Kitts
  • Bronwen Aken
  • Gabor T Marth
  • Michael M Hoffman
  • Javier Herrero
  • Richard Durbin
  • Paul Flicek

Colleges, School and Institutes

Abstract

The human genome reference assembly is crucial for aligning and analyzing sequence data, and for genome annotation, among other roles. However, the models and analysis assumptions that underlie the current assembly need revising to fully represent human sequence diversity. Improved analysis tools and updated data reporting formats are also required.

Details

Original languageEnglish
Pages (from-to)13
JournalGenome Biology
Volume16
Publication statusPublished - 24 Jan 2015

Keywords

  • Computational Biology/methods, Databases, Genetic, Genome, Human, Genomics/methods, Humans, Software