145: hs-MSI Validation: Detecting CMMRD and Pinpointing PMS2
Marín F et al., Clinical Chemistry - This episode examines a validation study of a highly sensitive NGS-based microsatellite instability (hs-MSI) assay for diagnosing constitutional mismatch repair de...
22 Syys 202516min
144: Revising the age of the human chromosome 2 fusion
Poszewiecka B et al., BMC Genomics (2022) 23:616 - This study presents an improved algorithm to compute the UBCS statistic and uses it to re-estimate the timing of the ancestral fusion that formed hum...
21 Syys 202517min
143: Modelling genetic 'outliers' in ancient Eurasia (S1E143)
Skourtanioti E et al., Cell - This episode summarizes a population‑genomic analysis that models genetic outliers in ancient Eurasian samples, using PCA and admixture modeling to test source combinatio...
20 Syys 202518min
142: PALB2 ACMG/AMP Specifications
Richardson M et al., The American Journal of Human Genetics - An international HBOP Variant Curation Expert Panel developed PALB2-specific specifications of the 2015 ACMG/AMP variant-interpretation gu...
19 Syys 202516min
141: RetiGene: a gene atlas for inherited retinal diseases
Rivolta C et al., The American Journal of Human Genetics - RetiGene is an expert‑curated, openly accessible atlas integrating variant data, bulk and single‑cell RNA‑seq, and functional annotations for...
18 Syys 202526min
140: SOD1 Variant Landscapes: Activity and Abundance Maps
Axakova A et al., The American Journal of Human Genetics - Axakova et al. produced comprehensive missense variant-effect maps for human SOD1 by assaying enzymatic activity in yeast and protein abundan...
17 Syys 202520min
139: MosCoverY: a coverage-based method to detect mosaic loss of Y
Timonina V et al., The American Journal of Human Genetics - MosCoverY is a coverage-based method that estimates mosaic loss of the Y chromosome (mLOY) from exome or whole-genome sequencing by normaliz...
16 Syys 202514min
138: Social exposome and dementia in Latin America
Migeot J et al., Nature Communications - Large multicenter study linking a multidimensional social exposome (education, food insecurity, finances, healthcare access, childhood experiences) to cognitio...
15 Syys 202519min
