User: bdolin

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bdolin40
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Posts by bdolin

<prev • 15 results • page 1 of 2 • next >
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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 14 hours ago by bdolin40
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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 17 hours ago by bdolin40
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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 2 days ago by bdolin40
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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 2 days ago by bdolin40
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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 29 days ago by bdolin40 • updated 2 days ago by chen930
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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 5 weeks ago by bdolin40
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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 7 weeks ago by bdolin40
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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 8 weeks ago by bdolin40
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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 8 weeks ago by bdolin40
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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 11 weeks ago by bdolin40

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