98296985b0763ebf2d6add3b51d9200ac6940d77
abenetpa
Thu Nov 5 06:21:39 2020 -0800
added variant regions in track description refs #24349
diff --git src/hg/makeDb/trackDb/human/giab.html src/hg/makeDb/trackDb/human/giab.html
index 418b72c..ca9f5a4 100644
--- src/hg/makeDb/trackDb/human/giab.html
+++ src/hg/makeDb/trackDb/human/giab.html
@@ -5,33 +5,33 @@
Bottle Consortium (GIAB), an open, public consortium hosted by
NIST. The priority of GIAB is to develop
reference standards, reference methods, and reference data by authoritative characterization of
human genomes for use in benchmarking, including analytical validation and technology
development that will support translation of whole human genome sequencing to clinical practice. The
sole purpose of this work is to provide validated variants and regions to enable technology and
bioinformatics developers to benchmark and optimize their detection methods.
The Ashkenazim and the Chinese Trio tracks show benchmark SNV calls from two
son/father/mother trios of Ashkenazi Jewish and Han Chinese ancestry from the
Personal Genome Project,
consented for commercial redistribution.
-The Genome In a Bottle Structural Variants track shows benchmark SV calls (5,262
-insertions and 4,095 deletions, > 50 bp, in 2.51 Gb of the genome) from the son (HG002/NA24385)
-from the Ashkenazi Jewish trio.
+The Genome In a Bottle Structural Variants track shows benchmark SV calls (nssv)
+and variant regions (nsv) (5,262 insertions and 4,095 deletions, > 50 bp, in 2.51 Gb of
+the genome) from the son (HG002/NA24385) from the Ashkenazi Jewish trio.
Samples are disseminated as National Institute of Standards and Technology (NIST)
Reference Materials.
Display Conventions and Configuration
These tracks are multi-view composite tracks that contain multiple data types (views). Each view
within a track has separate display controls, as described
here.
Unlike a regular genome browser track, the Ashkenazim and the Chinese Trio tracks display
the genome variants of each individual as two haplotypes; SNPs, small insertions and deletions
are mapped to each haplotype based on the phasing information of the VCF file. The