Latest Episodes
Episode 149
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September 26, 2025
149: Tracing ancient Y chromosome variation
Kivisild T et al., Hum Genet (2017) 136:529–546 - Review of how high-throughput sequencing of ancient human remains has enabled genome-scale study of male-specific...
00:15:04
Episode 148
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September 25, 2025
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...
00:14:44
Episode 147
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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
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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
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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
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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