AI Moves Genetic Variant Interpretation Beyond Simple Pathogenicity Scores
A review in Cell & Bioscience argues that AI-assisted genetic variant interpretation should move beyond isolated pathogenicity scoring toward evidence-centered ...
Tag: exome sequencing
Regional prenatal genomic testing adds diagnoses, but NIPT confirmations vary sharply
A retrospective cohort of 120 amniocenteses at a regional Turkish centre found that chromosomal microarray and exome sequencing added diagnoses ...
Systematic Review Maps the Genetic Landscape of Epilepsy Across Africa
A systematic review of 78 studies found 165 diagnostic genes and marked population-specific founder variants in African families with genetic ...
Large Genetic Study Maps DMD Variant Spectrum in Nearly 1,000 Patients
A stepwise MLPA-first, exome-sequencing-second workflow identified DMD variants in 921 of 940 confirmed Duchenne and Becker muscular dystrophy cases at ...
Biallelic ATM Variants Behind Decades-Long Familial Dystonic Choreoathetosis
A woman with nearly four decades of unexplained familial dystonic choreoathetosis received a molecular diagnosis of variant ataxia-telangiectasia after reanalysis ...
Large Parkinson’s Study Confirms Rare ITSN1 Gene Variants Raise Disease Risk
An analysis of 8,660 genetically characterized Parkinson's patients from the ROPAD study confirms that heterozygous loss-of-function variants in the ITSN1 ...
New Scoring Method Pinpoints the Rare Genetic Variants That Matter Most for Common Diseases
A new heritability-optimized scoring method called RovHer identifies the rare missense variants that explain the most genetic variation in complex ...
Landmark Nationwide Trial Shows Genome Sequencing Beats Standard Testing for Developmental Disorders
A nationwide Belgian randomized trial of 567 patients found that genome sequencing diagnosed 39.8 percent of developmental disorder cases, significantly ...
Exome Sequencing Uncovers Tuberous Sclerosis-2 Mutation Insights
Recent advancements in genetic research are shedding light on complex diseases, and a notable contribution comes from the work of ...
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