gimjournal.bsky.social
Genetics in Medicine, an official journal of @theacmg.bsky.social Site use policy: http://bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua
👤 Joined on 30 December 2024
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@gimjournal.bsky.socialENIGMA VCEP guidelines significantly improve BRCA1/BRCA2 variant interpretation, reducing VUS rates and streamlining clinical diagnostics bit.ly/4bHELwk #GIMO #ACMGAMP #BRCA1 #BRCA2 #VUS #ColdSpot #VariantClassification #UCSCGenomeBrowser #ClinicalGenetics #SingleNucleotideVariant #SNV #ENIGMA
Show PostReferral policies for hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS) vary widely and lack standardization, potentially impacting quality of care bit.ly/3F8d97w
Show PostLong-read sequencing phases rare pathogenic variants from minimal DNA, enabling faster newborn disease screening without parental testing bit.ly/3D4IkA3 #GIMO #CFTR #LongReadSequencing
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