Extending reference assembly models

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, M Lisandra Zepeda Mendoza, Richard Durbin, Paul Flicek

Research output: Contribution to journalArticlepeer-review

82 Citations (Scopus)


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.

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


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


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