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I believe the read depth chart is currently calculating the average coverage over the entire genome. This will yield a very small Y axis, so even if you zoom into an area where you know there's covera…
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### What you did:
I looked at the GnomAD 4.1 data for variant chr2:79195912-G-T
https://gnomad.broadinstitute.org/variant/2-79195912-G-T?dataset=gnomad_r4
### What happened:
The foot of the …
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Recently Paul (VCGS) flagged that Mito variants are coming through into Exome AIP reports
The final line of `gs://cpg-common-main/references/hg38/v0/exome_calling_regions.v1.interval_list`
is `chr…
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## Describe the issue
Hi,
We are currently using the G2P plugin based on the the global MAF in the locally downloaded gnomAD variants (`gnomADg_r3.1.1_GRCh38` and `gnomADe_r2.1.1_GRCh38`).
The…
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#### What data file(s) does this issue pertain to?
histologies.tsv
#### What release are you using?
v15
#### Put your question or report your issue here.
For `RNA_library`, the histol…
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Are Hg19 or other genome versions/species supported? I see that HG38 was used in the paper, but it was not clear if other genome versions would work. If so are any changes needed for either initial …
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We have used this algorithm on deep exome data but there seems to be a lot of NAs in our predictions. Nearly half of the predictions are NAs. What could be the reason for it?
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오늘 언급된 내용 중에 HISAT2 의 Exome version 포팅 이슈가 있었습니다.
Whole genome reference graph 에 read mapping 을 하는 것인데,
exome specific 버전이 필요한 이유가 궁금해 질문 드립니다.
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Hello!
Thank you for the benchmark! From your paper, you used data described at [phs000178.v11.p8](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000178.v11.p8)? From that …