User: bdolin

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bdolin80
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Posts by bdolin

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Comment: C: Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
... Thank you jzook. That was exactly the piece that I needed to understand. ...
written 15 days ago by bdolin80
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Comment: C: Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
... Thank you Kevin, I think I'm getting it! :-) Here are definitions from the above sites: True Positive in Truth (**TRUTH.TP**): a site in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site... True Positive in Query (**Q ...
written 16 days ago by bdolin80 • updated 16 days ago by Kevin Blighe9.3k
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Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
... Greetings, GA4GH benchmarking performance metrics (https://github.com/ga4gh/benchmarking-tools/blob/update-perf-metrics-definitions/doc/standards/GA4GHBenchmarkingPerformanceMetricsDefinitions.md) and PrecisionFDA Truth Challenge (https://precision.fda.gov/challenges/truth/results) define a "Truth. ...
next-gen sequence written 17 days ago by bdolin80 • updated 15 days ago by jzook0
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Answer: A: HGVS for F8 Intron 22 inversion (revisited)
... A response I received from the HGVS/HVP/HUGO sequence variant description working group: ---------- *acc. to HGVS recommendations the description is correct. It states that there is an inversion on the X chromosome with, based on the NC_000023.10 reference sequence, the breakpoints between nucleo ...
written 8 weeks ago by bdolin80
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Comment: C: HGVS for F8 Intron 22 inversion (revisited)
... Here is the link to the image: https://drive.google.com/open?id=0B8F9z-ZHlX-aWDJFQ1ZkVV9YMW8 ...
written 8 weeks ago by bdolin80
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HGVS for F8 Intron 22 inversion (revisited)
... Greetings, For this picture of a F8 Intron 22 Inversion Mutation (where we only know that the breakpoints are somewhere in homologous F8A1 genes (Graphic: ![F8 Intron 22 Inversion Mutation][1]), I've constructed an HGVS, but it doesn't validate in either Mutalyzer or in ClinGen's Allele Registry. ...
genome gene written 8 weeks ago by bdolin80
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Comment: C: Introduction to Human Genomics for Clinical Informaticists
... Greetings, Registration for the Fall 2017 session is now open: https://www.eventbrite.com/e/introduction-to-human-genomics-for-clinical-informaticists-fall-2017-tickets-37471226447 The course is free, and will run 9/26/17 - 12/19/17, All Classes are Tuesday, 12noon-2pm Pacific Time. Thanks ...
written 3 months ago by bdolin80
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Comment: C: Introduction to Human Genomics for Clinical Informaticists
... I was just informed that some sites cannot access our sharepoint, so we've placed a duplicate copy of course PPTs and related materials here: https://drive.google.com/drive/u/1/folders/0BwZOU-hVxH9xcFpRRmVLQzI0c2s ...
written 4 months ago by bdolin80
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Tutorial: Introduction to Human Genomics for Clinical Informaticists
... Greetings, We've put together a course "Introduction to Human Genomics for Clinical Informaticists" which I thought some of you might be interested in. This is an academic course designed for clinical informaticists with little to no prior biology experience, and clinicians with little to no prior ...
genome tutorial written 4 months ago by bdolin80
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Comment: C: How do we measure and report the quality of next generation sequencing?
... Thanks for the comments. Another relevant reference is the FHIR Genomics "Sequence" resource [https://hl7.org/fhir/genomics.html#sequence], which has fields for the quality of NGS data, and is aligning with the FDA's draft recommendations. So, perhaps through HL7 there is an evolving way to comm ...
written 4 months ago by bdolin80

Latest awards to bdolin

Appreciated 3 months ago, created a post with more than 5 votes. For Introduction to Human Genomics for Clinical Informaticists

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