User: bdolin

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bdolin0
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Posts by bdolin

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Barriers to a clinical "Test Once, Analyze Many" molecular DNA strategy.
... Given the dropping costs of WGS/WES, the maturation of public knowledgebases (such as [https://www.clinicalgenome.org/]), and the drive for precision medicine (where for instance there may be new or different things to glean from someone's DNA over time), there is an evolving use case whereby a clin ...
next-gen written 3 days ago by bdolin0
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Answer: A: Use of ISCN in public knowledgebases
... I received a response back from the dbVar folks, regarding the 2 questions I posed to them: [1] Is there a way to search dbVar by ISCN? [2] Is there a way to see the ISCN strings that have been submitted? Here is their response: *"... Examining the indexing field under "Advanced" and checking rel ...
written 6 days ago by bdolin0
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Use of ISCN in public knowledgebases
... Greetings, I'm struggling with finding an example of ISCN notation for [1] Trisomy 21 as detected by FISH; [2] Trisomy 21 as detected by microarray, and wondering if anyone can help? Also curious to know if there is publically accessible ISCN validator? It seems as though ISCN could be very useful ...
sequence written 10 days ago by bdolin0
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Answer: A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
... Thanks for your comments. The Hemophilia A intron 22 inversion is well described in the literature - here is a quote: "It is hypothesized that the inversion mutations occur almost exclusively in germ cells during meiotic cell division by an intrachromosomal recombination between a 9.6-kb sequence wi ...
written 4 weeks ago by bdolin0
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Answer: A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
... Right, but isn't "c.6429+?_6430-?inv" only referring to ONE end of the inversion? It seems to be saying that one end of the inversion is upstream of position 6429 and downstream of position 6430 (i.e. in intron 22). So, you'd need to say something about the other end - perhaps just "1-?" if you know ...
written 4 weeks ago by bdolin0
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Answer: A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
... Thank you for your response. I also heard back from a member of the LOVD team, and here is their response: "*the descriptions c.6429+?_6430-?inv and c.6429+?_6430-?h-2inv do not follow current HGVS recommendations. In the F8 gene variant database there is one description of a sequenced F8 inversio ...
written 4 weeks ago by bdolin0
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Answer: A: ClinVar vs. dbSNP/dbVAR
... I think I may have answered my own question - I think I found a ClinVar record for which there is neither a dbSNP nor a dbVAR record - see ClinVar 10150 (Hemophilia A, intron 22 inversion mutation) ...
written 5 weeks ago by bdolin0
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What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
... Greetings, I'm a bit new to HGVS, but something seems wrong here. The CDC Hemophilia Mutation Project (CHAMP & CHBMP) site [https://www.cdc.gov/ncbddd/hemophilia/champs.html] contains a spreadsheet which includes HGVS strings for the Hemophilia A intron 22 inversion mutation: c.6429+?_6430-?h ...
genome gene written 5 weeks ago by bdolin0
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ClinVar vs. dbSNP/dbVAR
... Greetings, Is it the case that ALL variants in ClinVar are in dbSNP or dbVAR as well? Thanks! ...
snp written 6 weeks ago by bdolin0

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