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### Description
Clinicians need to be able to detect LoH and CNV in TGA cases. Currently a CNV report is produced which contains diagrams and tables for CNVs and LoH, CNVs are also in the SV VCF file…
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We are following the example here and noticed the following overlap with the example data between somatic SNV calls made from scRNAseq with v1.0 and v1.6.
 in NUTM2G has ExAC frequency of 0.13 and PSAP p-value of 10^-6. Uncle…
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### Description of feature
DeepMind AlphaMissense is expected and welcome, better than previous though perhaps a little underwhelmingly so:
https://www.science.org/doi/10.1126/science.adg7492
Dow…
dnil updated
5 months ago
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Hello Brent- This work looks very promising, I'm going to keep my eye on it's development for sure.
Also: I encourage you to investigate octopus!
We use octopus as the variant caller in our c…
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We need to persist small blobs of data to the eMMC and/or SNVS flash, where small is ~1kB or (much) less.
In practice these blobs will be ciphertexts of configuration data and cryptographic keys en…
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GDC: https://docs.gdc.cancer.gov/Data/Bioinformatics_Pipelines/DNA_Seq_Variant_Calling_Pipeline/
- features we'd like to support: snv, indel, structural variants, extra chromosomal dna
- create ta…
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A SNV is a private mutation while a SNP is a mutation that is shared amongst a population.
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Hello,
Just encountered the issue using Mutect2 (tried several versions) with PureCN 2.2.0. PureCN has failed for most samples with majority of variants filtered out by BQ
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Hi guys,
We've been experiencing a crash in genome/lib/perl/Genome/Model/ClinSeq/Command/**SummarizeTier1SnvSupport.pm.R**
The code where the script crashes is on the following line:
`p = p + geom_v…