#variantcuration ผลการค้นหา
Gene Curation Coalition (#GenCC) supports harmonization across genomic resources, improving #variantcuration, classification, and reporting #genecuration #ontology #geneticdiagnosis bit.ly/3R1jnbu
Primera part de la jornada #CATgenetica dedicada a com classificar variants genètiques en funció del gen alterat, a partir de la tasca dels grups d'expertesa internacionals #variantcuration del programa ClinGen @ClinGenResource. Una feina molt necessària per a la interpretació.
Assay standardisation and assessment of benign variants is required for optimal use of the PS3/BS3 criterion for telomere gene variant classification #telomere #variantcuration bit.ly/3jV717M
Maximizing test utility necessitates context-specific recalibration of uncertainty management and communication #variantcuration #genomicmedicine #polygenicriskscores @PeterMacHSR bit.ly/3PvTyzA
A slightly different morning view this morning for our #variantcuration workshop #genomics #auckland
AI-driven variant-prioritization models rank likely pathogenic mutations, reducing manual curation time by 50% for clinical scientists. #AIinGenomics #VariantCuration
Differences in lab interpretation of variants can affect clinical management. Really glad that @meganf1 put this data together! #Genetics #TP53 #variantcuration ascopubs.org/doi/abs/10.120…
Ironically on #RareDiseaseDay family w/ three affected kids. My task was to review undiagnosed cases & perform #VariantCuration at that time no one was interested in this novel gene. So, I shared it on @GeneMatcher 2017, got a match two-years later 2019, & published 2021! #GCchat
Our recent paper in collaboration with @UHSFT identifying biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly #GCchat pubmed.ncbi.nlm.nih.gov/33632302/
pubmed.ncbi.nlm.nih.gov
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts...
This adds to the growing body of evidence that COPI subunits are essential in brain development and human health and underlines the utility of exome and genome sequencing coupled with Xenopus...
Albeit late post, I really enjoyed doing this seminar last month as a part of the NUHS Clinician Scientists Research Seminar series. Thanks for the opportunity @rsyf2 ! #variantcuration #variantcurator #Genomics #Genetics #RareDisease
So excited that Swati is going to showcase "variant curation" to our clinician scientists. Reading whole genomes can be fun @NUSMedicine @NUHS @CheckOrphan @RareDiseases #genomesequencing #RareDisease #Genetics #Genomics #precisionmedicine #personalisedmedicine
Excited to learn about this paper at #NSGC20. Covers #variantcuration insight and relates to one of my favorite genes #RUNX1 pubmed.ncbi.nlm.nih.gov/32165484/
Attended a very informative and practical workshop on cancer variant curation #pathos #variantcuration fb.me/2tOJd6FyT
Gene Curation Coalition (#GenCC) supports harmonization across genomic resources, improving #variantcuration, classification, and reporting #genecuration #ontology #geneticdiagnosis bit.ly/3R1jnbu
Assay standardisation and assessment of benign variants is required for optimal use of the PS3/BS3 criterion for telomere gene variant classification #telomere #variantcuration bit.ly/3jV717M
Primera part de la jornada #CATgenetica dedicada a com classificar variants genètiques en funció del gen alterat, a partir de la tasca dels grups d'expertesa internacionals #variantcuration del programa ClinGen @ClinGenResource. Una feina molt necessària per a la interpretació.
Maximizing test utility necessitates context-specific recalibration of uncertainty management and communication #variantcuration #genomicmedicine #polygenicriskscores @PeterMacHSR bit.ly/3PvTyzA
A slightly different morning view this morning for our #variantcuration workshop #genomics #auckland
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