[genome-announce] Highly Reproducible genomic regions for sequencing for human

9 views
Skip to first unread message

Jairo Navarro Gonzalez

unread,
Jun 21, 2023, 2:23:11 PM6/21/23
to genome-...@soe.ucsc.edu
Hello everyone,

We are happy to announce the release of the Highly Reproducible genomic regions for sequencing for the human (GRCh38/hg38) genome assembly, which is part of the Problematic Regions supertrack. The Highly Reproducible Regions composite track highlights regions and variants from eight samples that can be used to assess variant detection pipelines.

The "Highly Reproducible Regions" subtrack comprises the intersection of the reproducible regions across all eight samples, while the "Variants" subtracks contain the reproducible variants from each assayed sample. Both tracks contain data from the following samples:

  • a Chinese Quartet, samples CQ-5, CQ-6, CQ-7, CQ-8
  • a HapMap Trio, samples NA10385, NA12248, NA12249
  • a Genome in a Bottle sample, NA12878s

We would like to thank the authors of the Assessing reproducibility of inherited variants detected with short-read whole genome sequencing paper for making the data publicly accessible. We would also like to thank Christopher Lee and Jairo Navarro for creating and releasing these tracks.

Reply all
Reply to author
Forward
0 new messages