875e9fe8f6fa7f964ca2d9bdd837c5e106c32198
gperez2
Thu Dec 9 17:10:29 2021 -0800
Fixed hg38 desc page links, refs #28565
diff --git src/hg/makeDb/trackDb/human/dbSnp153Composite.html src/hg/makeDb/trackDb/human/dbSnp153Composite.html
index f489a79..2908aaa 100644
--- src/hg/makeDb/trackDb/human/dbSnp153Composite.html
+++ src/hg/makeDb/trackDb/human/dbSnp153Composite.html
@@ -110,35 +110,30 @@
- 1000Genomes:
The 1000 Genomes Phase 3 dataset contains data for 2,504 individuals from 26 populations.
- GnomAD exomes:
The gnomAD
v2.1
exome dataset comprises a total of 16 million SNVs and 1.2 million indels from 125,748 exomes
in 14 populations.
- TOPMED:
The TOPMED dataset contains phase 3 data from freeze 5 panel that include more than 60,000
individuals. The approximate ethnic breakdown is European(52%), African (31%),
Hispanic or Latino (10%), and East Asian (7%) ancestry.
- - ExAC:
- The Exome Aggregation Consortium (ExAC) dataset contains 60,706 unrelated individuals
- sequenced as part of various disease-specific and population genetic studies.
- Individuals affected by severe pediatric disease have been removed.
-
- PAGE STUDY:
The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of
Complex Traits.
- GnomAD genomes:
The gnomAD
v2.1
genome dataset includes 229 million SNVs and 33 million indels from 15,708 genomes
in 9 populations.
- GoESP:
The NHLBI Grand Opportunity Exome Sequencing Project (GO-ESP) dataset contains 6503 samples
drawn from multiple ESP cohorts and represents all of the ESP exome variant data.
- Estonian:
@@ -153,31 +148,31 @@
- TWINSUK:
The UK10K - TwinsUK project contains 1854 samples from the
Department of Twin Research and
Genetic Epidemiology (DTR).
The DTR dataset contains data obtained from the 11,000 identical and non-identical twins
between the ages of 16 and 85 years old.
- NorthernSweden:
Whole-genome sequenced control population in northern Sweden reveals subregional
genetic differences. This population consists of 300 whole genome sequenced human samples
selected from the county of Vasterbotten in northern Sweden. To be selected for inclusion
into the population, the individuals had to have reached at least 80 years of age and have
no diagnosed cancer.
- - Vietnamese:
+
- Vietnamese:
The Vietnamese Genetic Variation Database includes about 25 million variants (SNVs and indels)
from 406 genomes and 305 exomes of unrelated healthy Kinh Vietnamese (KHV) people.
The project from which to take allele frequency data defaults to 1000 Genomes
but can be set to any of those projects.
Using the track controls, variants can be filtered by
- minimum minor allele frequency (MAF)
- variation class/type (e.g. SNV, insertion, deletion)
@@ -535,39 +530,38 @@
bigBedNamedItems -nameFile dbSnp153.bb myIds.txt dbSnp153.myIds.bed
The columns in the bigDbSnp/bigBed files and dbSnp153Details.tab.gz file are described in
bigDbSnp.as and
dbSnpDetails.as respectively.
For columns that contain lists of allele frequency data, the order of projects
providing the data listed is as follows:
- 1000Genomes
- GnomAD exomes
- TOPMED
- - ExAC
- PAGE STUDY
- GnomAD genomes
- GoESP
- Estonian
- ALSPAC
- TWINSUK
- NorthernSweden
- - Vietnamese
+ - Vietnamese
UCSC also has an
API
that can be used to retrieve values from a particular chromosome range.
A list of rs# IDs can be pasted/uploaded in the
Variant Annotation Integrator
tool to find out which genes (if any) the variants are located in,
as well as functional effect such as intron, coding-synonymous, missense, frameshift, etc.
Please refer to our searchable
mailing list archives