User: bdolin

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bdolin80
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Posts by bdolin

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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 2 days 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 2 days 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 2 days 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 5 weeks 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 9 weeks 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 9 weeks 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 9 weeks ago by bdolin80
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Answer: A: How do we measure and report the quality of next generation sequencing?
... This is so far the best resource I've found on this topic: https://www.fda.gov/downloads/medicaldevices/deviceregulationandguidance/guidancedocuments/ucm509838.pdf ...
written 9 weeks ago by bdolin80
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How do we measure and report the quality of next generation sequencing?
... Greetings, Does anyone have guidance on how best to report quality and accuracy of NGS (overall, and for specific regions) for a clinical application? Thanks ...
next-gen written 3 months ago by bdolin80 • updated 9 weeks ago by chen990
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Reinterpreting variant results in an EHR
... Greetings, I'm wondering if anyone can point me to references that discuss challenges with reinterpreting variant results in an EHR. There are (at least) two reinterpretation scenarios I'm trying to better understand: 1. New findings come out, prompting a re-examination of existing variants; 2. ...
sequencing written 3 months ago by bdolin80

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Appreciated 8 weeks ago, created a post with more than 5 votes. For Introduction to Human Genomics for Clinical Informaticists

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