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Variant Interpretation: UCSC Genome Browser Recommended Track Sets
  • +12
  • Anna Benet-Pagès,
  • Kate Rosenbloom,
  • Luis Nassar,
  • Christopher Lee,
  • Brian Raney,
  • Hiram Clawson,
  • Daniel Schmelter,
  • Jonathan Casper,
  • Jairo Navarro Gonzalez,
  • Gerardo Perez,
  • Brian Lee,
  • Ann Zweig,
  • W James Kent,
  • Maximillian Haeussler,
  • Robert Kuhn
Anna Benet-Pagès
University of California Santa Cruz
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Kate Rosenbloom
University of California Santa Cruz
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Luis Nassar
University of California Santa Cruz
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Christopher Lee
University of California Santa Cruz
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Brian Raney
University of California Santa Cruz
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Hiram Clawson
University of California Santa Cruz
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Daniel Schmelter
University of California Santa Cruz
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Jonathan Casper
University of California Santa Cruz
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Jairo Navarro Gonzalez
University of California Santa Cruz
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Gerardo Perez
University of California Santa Cruz
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Brian Lee
University of California Santa Cruz
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Ann Zweig
University of California Santa Cruz
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W James Kent
University of California Santa Cruz
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Maximillian Haeussler
University of California Santa Cruz
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Robert Kuhn
University of California Santa Cruz
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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 (SNVs) and Copy Number Variants (CNVs) 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.

Peer review status:IN REVISION

22 May 2021Submitted to Human Mutation
24 May 2021Assigned to Editor
24 May 2021Submission Checks Completed
05 Jul 2021Reviewer(s) Assigned
20 Jul 2021Review(s) Completed, Editorial Evaluation Pending
07 Aug 2021Editorial Decision: Revise Minor