Latest Episodes
Episode 147
•
September 24, 2025
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...
00:15:37
Episode 146
•
September 23, 2025
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...
00:15:56
Episode 145
•
September 22, 2025
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...
00:16:59
Episode 144
•
September 21, 2025
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...
00:17:10
Episode 143
•
September 20, 2025
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...
00:18:56
Episode 142
•
September 19, 2025
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...
00:16:35