148: CHEK2 splice-site variants: minigene dissection
Sanoguera-Miralles L et al., Clinical Chemistry - This episode examines a minigene-based functional study of 52 CHEK2 splice-site variants from the BRIDGES project, reporting widespread splice disrupt...
25 Sep 202514min
147: Full-length ABO Haplotype Sequencing and Variant Resolution
Ying Y et al., Clinical Chemistry 71:4 (2025) 510–519 - This episode reviews a Clinical Chemistry study that developed an improved one-step ultra-long-range PCR with PCR suppression primers and PacBio...
24 Sep 202515min
146: Automated, Decentralized cfDNA Profiling for Targetable and Resistance Alterations
Chan HT et al et al., Clinical Chemistry - This study evaluates an automated, decentralized cfDNA NGS workflow (Oncomine Precision Assay GX with the Genexus system) in 298 patients with advanced solid...
23 Sep 202515min
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 Sep 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 Sep 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 Sep 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 Sep 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 Sep 202526min
