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Sources of data
** New: ExAC paper scores and mouse emb lethal info into Exomiser: 79% of loss-of-function-intolerant genes to have no known associated disease (~2500): list of the loss-of-function…
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@mbrush FYI - the links you are using in the wiki and ontobee entrees (geno for example) to reference the clingen models are old and not working (sorry - we weren't able to reroute them on our side).
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2019.4.15日批次的高血压项目3888样本中,todo_oldDB的位点在位点解读位点描述中只有cds,但无PEP,请查找原因。chr3:53844177,CACNA1D,c.6104G>A , p.Ser2035Asn.
位点描述:
本筛查检测出CACNA1D基因的变异,变异位点为c.6104G>A,查询ClinVar等公共数据库显示,c.6104G>A变异会导致-错义变异。该变异在g…
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When classifying variants in Scout the criteria are the same for all genes (but you can modify the strength of each criteria). ClinGen are publishing more and more gene-specific interpretations of the…
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SVAFotate ran into the error below when it was run with a manta vcf and option `--ci out`.
```
Gathering SV coordinates from VCF file: data/raw/in.vcf
Traceback (most recent call last):
File…
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Our current recommendation follows the ACMG set f clinical significance terms (P, LP, B, LB, VUS). But this approach conflates the significance classification with the asserting agent's confidence th…
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Hi @pedmon and @maggiemcfee. I've been doing some experimenting with Spack builds on RockyLinux. I've created a Git repo with the `modules.yaml`, `packages.yaml`, and `compilers.yaml` files that see…
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In adopting SEPIO, ClinGen now creates EvidenceLine objects in their model. I propose we develop a type system for classifying these objects. This will provide an important level of interoperability …
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Talked to Lucas and Kerryn about CNV classifications
They use [2020 ACMG CNV guidelines](https://pubmed.ncbi.nlm.nih.gov/31690835/)
Biggest questions are:
* Is gene LOF
* If CNV is not whole gene, t…