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Base by Base

Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical...more

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Latest Episodes

62: When Origins Fail: Pre-RC Loss and PARP Inhibitor Resistance

Episode 62

July 01, 2025

62: When Origins Fail: Pre-RC Loss and PARP Inhibitor Resistance

Pappas K et al., PNAS - A genome-wide CRISPR screen in Brca2‑deficient murine prostate organoids identifies loss-of-function in DNA prereplication complex genes (CDT1, CDC6,...

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00:17:00

️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay

Episode 61

June 30, 2025

️ 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay

️ Episode 61: Monkeypox on the Frontline — Developing Brazil’s First qPCR Diagnostic Assay In this episode of Base by Base, we trace the...

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00:22:43

60: Epi-PRS: Genomic LLMs and imputed epigenomics boost polygenic prediction

Episode 60

June 30, 2025

60: Epi-PRS: Genomic LLMs and imputed epigenomics boost polygenic prediction

Zeng W et al., PNAS - This paper introduces Epi-PRS, a workflow that uses genomic large language models to impute cell-type-specific epigenomic features from...

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00:17:41

59: Optimizing Engagement in Cancer Genomics

Episode 59

June 29, 2025

59: Optimizing Engagement in Cancer Genomics

Crossnohere NL et al., Genetics in Medicine - Overview of how the PE-CGS Network defined, implemented, and evaluated strategies to engage participants and communities...

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00:22:55

58: Jo|wo�t{z {q kzo�|w{tn moww� study

Episode 58

June 28, 2025

58: Jo|wo�t{z {q kzo�|w{tn moww� study

Kwozk L��k~t et al., Ioww Moz{ytm� 9. 433<=7. F�r��� 46. 5359 - This article presents analyses of Jo|wo�t{z {q kzo�|w{tn moww� and related tz�o~km�t{z�...

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00:22:04

57: Low rates of genetic testing in Medicaid-enrolled children with ASD and ID

Episode 57

June 27, 2025

57: Low rates of genetic testing in Medicaid-enrolled children with ASD and ID

Brown TR et al., Genetics in Medicine - This episode reviews a claims-based study of 241,060 Medicaid-enrolled children (ages 7–17) from 2008–2016 that measured...

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00:19:40