23 results in 0.0035 seconds.
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VUSkb, one place to triage VUS with ACMG evidence, literature, and ClinVar alerts: feedback welcome!
Hi everyone, I’m part of the Vgenomics team that built VUSkb (vuskb.com). We created it to reduce the time spent jumping across browsers/spreadsheets... -
Variant format conversion to genome coordinates
Hello everyone,
My name is Krishna, and I am currently working as a project student in the field of Clinical Genetics, specifically the rare... -
Introducing Skymap-JHub: accessing omics from >400,000 sequencing runs made simple
Quick start: Click here to use our JupyterHub to go from omic-data to publication figures in < 1 minute (YOUR CAN DO THIS EVEN ON YOUR PHONE)
...Last edited by brianytsui; 10-18-2018, 12:16 AM. -
Software to annotate variants
I am wondering if there is any software that annotates variants not by the variants genomic coordinates but by their position in the cDNA.
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Exome data available
Does anyone know if there is exome data available from patients? I mean data to be used for variants analysis. -
strange GT values from GATK
Hi,
I am looking at some data processed through Illumina's BWA+GATK pipeline.
I found some funny GT values, like:
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Public Repository for variants/vcf for cancer datasets
Hi,
Is anyone aware of a public repository of variants/snps for cancer datasets?
~Thanks,
Rini -
SNV ignored by bcftools
Hi everyone,
I am currently using bcftools to call variants and saw some strange behavior. It would be perfect if someone could explain...Last edited by behrj; 11-25-2014, 06:18 AM. -
ethnicity check
Hello, I have sequenced 20 exomes with the Ion Proton system and have to do an ethnicity check on all samples as a quality control step. I have the reported... -
Ion Torrent Ampliseq: duplicate removal / coverage / variants?
Hi Folks
I would love to get some opinions regarding duplicate removal during variant calling for the AmpliSeq Comprehensive Cancer Panel.... -
How to call variants from two samples?
Hi,
I'm analyzing two exome deep sequencing libraries, one from cancer cells and the other from normal cells.
I have been through... -
Speed of variant callers
My variant calling seems very slow. What do you think?
We have 10 BAM files, each about 2.5GB, covering a targetted region of about... -
Too many Variants called by HaplotypeCaller GATK
Hi everybody,
I am doing Exome analysis on 8 individual (family) and I just got something weird as I think. My pipeline is following the... -
ANNOVAR dropped variants... is the MAF filter working?
Hi all!
I have one question about the variant filtering with the useful ANNOVAR software.
I prepare my input in this way:...Last edited by jmatés; 08-19-2013, 02:26 AM. -
Identifying de novo variants in trio data
I have trio datasets that I have phased using GATK's PhaseByTransmission and ReadbackedPhasing walkers.
My target is to identify de novo...
