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![image](https://user-images.githubusercontent.com/49855793/57442581-e0888580-727e-11e9-8af5-2827dbeab41b.png)
高血压panel里的KLHL3基因,对应疾病有AD AR两种遗传模式,位点描述里不要出现‘该疾病为隐性遗传病一段’
本筛查检测出KLHL3基因的变异,变异位点为c…
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Hey
I run command and get some info about missing "clinvar_clnsig" column":
`python3 tapes.py sort -i test.VEP.vcf -o vepout.txt --tab`
***TAPES: SORT***
> 2021-07-14 10:28…
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--Hi,
i think Open-Cravat is not able to properly convert raw vcf ouput from Gridss caller to a standard VCF and then the analysis failed.
Is there a patch for this ?
thank you --
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以后咱们讨论的一些结论性的内容都会更新到这里,方便咱们后续查找哈
[20190426-与生信讨论.docx](https://github.com/nuohexinkang/bio-info-annotation/files/3119944/20190426-.docx)
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I'm trying to figure out why PM1 is scored as 1 for a variant. The variant is:
(hg19) 11:36615436C>T - RAG2 NM_001243786:exon3:c.G283A:p.G95R
I checked the PM1 check function:
```
def check_PM1(…
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Get used to the different databases, locate them and view them as a whole.
Databases:
- Databases of ClinVar: Gene_symbol, NCBI_variation_ID, ClinVar_Preferred, Submitter,Rank_diff, Conflict_Re…
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Weitere Kommentare / Nachfragen:
* Auf art-decor.org ist die Readtiefe (Read Depth) als String-Value definiert, hier wäre Integer ≥ 0 wünschenswert
* Als Type von Methode ist Code spezifiziert. Welc…
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As you may have noticed, we made a premature decision to move to hg38, which we kind of already regret. :) But we're trying to push through, hopefully it will be slightly easier for other scout users …
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Consider the following pattern:
(subject:gene)(object:disease)
Where relation is one of:
1. pathogenic
2. likely pathogenic
3. has phenotype
4. marker/mechanism
5. contributes to
...
In…
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I am trying to run tapes using a vep vcf as input. The vep vcf that I am using as input contains the ClinVar significance information in the CLIN_SIG entry which is part of the CSQ INFO field which ha…