Genetics in Medicine
@GIMJournal
Genetics in Medicine, an official journal of @TheACMG Site use policy: https://t.co/gMGoSv2TJY. Cover Photo by Robin L. Bennett
ID:3019975299
https://www.gimjournal.org/ 05-02-2015 15:55:24
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From microform to severe: Clinical spectrum and inheritance of of DISP1-related #holoprosencephaly bit.ly/4bjIv5P #genetics #craniofacial Dupe Research group
Nuances of #DEI in #AI : Is regulatory oversight of #ArtificialIntelligence equipped to tackle #diversity challenges and potential risks of AI use in clinical #genomics ? bit.ly/3Up5hT6
One assay serves all? This review discusses genome sequencing as a versatile and comprehensive approach for diverse genetic testing purposes bit.ly/3y0dCVJ #GIMO #ClinicalGenomeSequencing #ExomeSequencing #ShortReadSequencing #LongReadSequencing
Burden of reanalysis? A new study showed efficient reanalysis strategies by tracking updates in reputable clinical databases bit.ly/44fXXNU #GIMO #reanalysis #ClinVar #ACMGGuideline #screening #efficiency
When #MetabolicGenetics meets #CardioGenetics : significant burden of severe cardiac involvement in LCHAD deficiency including #Arrhythmia #Cardiomyopathy #SuddenCardiacDeath bit.ly/44jGeFE
Are we keeping up with the times? What do #geneticists and #geneticcounselors think about the use of digital tools for clinical practice? bit.ly/3WeKvrM
1 in 343 patients harbored copy number variants of ACMG SFv3.2 genes, according to a survey of a large cohort of nearly 11,000 patients bit.ly/3wbJJB5 Mahmoud Aarabi #GIMO #ACMG #CNV #CopyNumberVariants #SecondaryFinding #CopyNumberGain #CopyNumberLoss
The power of #datasharing and #functionaltesting : Ebstein et al. describe the consequences of USP14 biallelic loss-of-function variants and associated #neurodevelopmental disorder bit.ly/4b8IfGz #GeneMatcher #neurogenetics
A case series of individuals with Yunis-Varón syndrome (YVS) provides better understanding of the phenotypic variability related to pathogenic variants in FIG4 or VAC14 bit.ly/3Up3e2G #GIMO #ExomeSequencing #FIG4 #osteopenia #VAC14 #YunisVarónSyndrome