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When I execute the script STAARpipelineSummary_Known_Loci_Pruning.r, there are several chromosomes that did not generate corresponding data, and the error is as follows:
used (Mb) gc trigger…
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New term request Corneal biopsy: disorganized collagen fibrils on transmission electron microscopy (elthat_100826013922):
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New term request Glycogen brancher enzyme activity low in skin fibroblast (segal_090511164419): GBE; Amylo(1,4 - 1,6) transglucosidase deficiency UMLS: 1856314
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Hi Lindsay,
I noticed that in the paper you stated "A variant is predicted to be an eQTL or GWAS hit if its log-odds is greater than 0.01 (eQTL) or 0.0075 (GWAS) ". However, in the CharacterizeVari…
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**Mondo term (ID and Label):**
MONDO:0011965 familial temporal lobe epilepsy 2
**Xref that should be fixed (ID and label):**
[Familial temporal lobe epilepsy](https://www.ebi.ac.uk/ols4/ontologie…
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There are a few SNPs with pathogenic WT alleles:
- chr2:27508073-27508073 T>C (GCKR, Fettleber) - AF67%
- chr2:27518370-27518370 T>C (GCKR, Fettleber) - AF66%
- chr7:87450090-87450090 T>A (ABCB4, chol…
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From our colleagues at RCIGM, we have several example use cases related to genetic diseases. The goal is to take info about the variants and the phenotypes, and to propose candidate therapies. For t…
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@Clare72 (FlyBase) has kindly started a review of alignments between DPO and PHIPO. Here are her notes:
DPO | PHIPO | Label DPO | Label PHIPO | Alignment | Note
-- | -- | -- | -- | -- | --
FBcv_0…
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Hi Xihao,
1)
I see a lot of these warnings in my analysis and my cohort is very small, ~480 samples.
Would it be safe to use single.strand.genes.only=FALSE to increase the # variants in a gene…
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**Describe the bug**
Alba first called a translocation involving HOXA13. I searched and tagged it in seqr - https://seqr.broadinstitute.org/project/R0384_rare_genomes_project_gen/saved_variants/varia…