Hello everyone,
My name is Krishna, and I am currently working as a project student in the field of Clinical Genetics, specifically the rare...
17 results in 0.0021 seconds.
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Variant format conversion to genome coordinates
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get rsID or positions from variant name/gene info
Hi,
I have a list of variant and gene info as follows:
MCOLN1 c.406-2A>G
G6PC c.247C>T
PCDH15 c.733C>T... -
hg19 vs hg38. Notable differences.
Hi,
I’m working with some clinical exome sequencing data and I have a few questions.
I followed the GATK’s best practices... -
dbSNP database for just NA12878
So I may be completely wrong here but please correct me since I'm mostly used to doing RNA splicing analysis.
I have sequenced sheared... -
Access population diversity in dbSNP
I want to access dbSNP database with java and obtain the population diversity. The first thing that I did was to use eUtils (Entrez Programming Utilities)... -
Available Personal Genomes
Hi,
We are resequencing segmental duplications of high sequence identity and there is very little overlap with dbSNP in these regions.... -
help with ftp files from dbSNP
Hi All,
I have questions about some files that I donwloaded via ftp from dbSNP (ftp://ftp.ncbi.nlm.nih.gov/snp/database/organism_data/... -
interpret a somatic mutation labelled in dbsnp
Hi,
I am analysing somatic mutations that -theoretically- have been already filtered for SNPs -I'm not involved in the mutation pipeline-;... -
How can I overlay my SNP variants with various databases
Hello,
Has anyone tried to overlay human genomes variants with the 1000G or Hapmap or dbsnp. If so, what are the results like ?
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help finding indels, etc. in dbSNP database!
I am grabbing the from the NCBI FTP the dbSNP dataset and I have the files by chromosome that list genome location for the variant but I can't tell if... -
Illumina Truseq Exome 62Mb - variant metrics?
Hey Everyone,
I'm just curious what kind of variant metrics everyone obtains for the Truseq 62 Mb exome enrichment. I've only processed... -
Best way to get 1.3m genome positions for rsIDS (EMMAX output)?
Hello, it's my first post so please be gentle!
I have EMMAX GWAS output - RSid beta p-value. I need to get the chromosome number and position... -
dbSNP download
Hi everyone,
I would like to import the dbSNP database into CLC Bio to use it for filterning. Where can I download this? And which format... -
dbSNP build 133 & mysql
Does anyone know of a mysql table version of dbSNP build 133? I assume eventually it will appear at UCSC, but it may take a while. -
dbSNP132 bug (human)
Has anyone noticed the VCF version of dbSNP132 bug on reporting indels?
the called location doesn't match the A/T/C/G letter sequence on the genome....
