f605a32582341e556d53451a4ccc5c63e75a8fc5 jnavarr5 Wed Sep 24 15:56:30 2025 -0700 Staging the CoLoRSdb announcement and fixing a merge conflict, refs #34120 diff --git src/hg/htdocs/goldenPath/newsarch.html src/hg/htdocs/goldenPath/newsarch.html index b29abb2ae7e..b55dd14a8c5 100755 --- src/hg/htdocs/goldenPath/newsarch.html +++ src/hg/htdocs/goldenPath/newsarch.html @@ -51,59 +51,87 @@
You can sign-up to get these announcements via our Genome-announce email list. We send around one short announcement email every two weeks.
Smaller software changes are not announced here. A summary of the three-weekly release changes can be found here. For the full list of our daily code changes head to our GitHub page. Lastly, see our credits page for acknowledgments of the data we host.
- + + + ++We are excited to announce the release of the CoLoRSdb Small and Structural Variant tracks for the +human assemblies +GRCh38/hg38 and +CHM13/hs1. These +tracks provide a comprehensive catalog of genetic variation discovered through long-read whole +genome sequencing, contributed by the international +Consortium of Long Read Sequencing (CoLoRS). The +small variant tracks (DeepVariant + GLnexus) contain single nucleotide polymorphisms (SNPs) and +short indels, while the structural variant tracks (pbsv + Jasmine) display larger events including +insertions, deletions, and inversions. Long-read sequencing technology improves sensitivity in +repetitive regions and provides more precise breakpoint resolution than short-read approaches, +enabling accurate visualization of complex loci in the Genome Browser.
++Each track includes allele frequency and sample count annotations, with additional filtering options +for variant size and type. Users can click on individual variants to view detailed metadata, such as +allele counts, homozygous/heterozygous call distributions, and Hardy-Weinberg equilibrium values. +
++We would like to thank Mike Schatz, Evan Eichler, and all CoLoRSdb investigators for generating and making the data publicly available. We +would also like to thank Karen Wang and Jairo Navarro Gonzalez for the creation and release of these +tracks. +
We are pleased to announce the release of the Developmental Disorders Genotype-to-Phenotype (DDG2P) track for hg19 and hg38. The DDG2P track displays genes associated with severe developmental disorders. The track can be used to filter genomic sequencing data of people with genetic disorders to identify likely causative variants and accelerate diagnosis.
Items in this track are colored according to the likelihood that the gene-disease association is true: