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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

336: Measuring disease likelihood in genomic ascertainment

Episode 336

April 07, 2026

336: Measuring disease likelihood in genomic ascertainment

Sapp JC et al., The American Journal of Human Genetics - A longitudinal study of recipients of medically actionable secondary genomic findings develops a...

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00:24:29

335: Altai Neandertal Genome Reveals Deep Population Structure

Episode 335

April 05, 2026

335: Altai Neandertal Genome Reveals Deep Population Structure

Massilania D et al., PNAS - We summarize a PNAS study reporting a ~37× genome from a ~110,000-year-old male Neandertal (Denisova 17) from Denisova...

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00:23:54

334: LINE-1 Recombination with Diverse RNAs

Episode 334

April 05, 2026

334: LINE-1 Recombination with Diverse RNAs

Law C-T et al., Cell Genomics - Law and Burns introduce TiMEstamp, a comparative-genomics pipeline that dates LINE-1 insertions from multiple sequence alignments and...

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00:21:38

333: Holistic determination of cfDNA ends

Episode 333

April 04, 2026

333: Holistic determination of cfDNA ends

Jiang P et al., Cell Genomics - This episode reviews a Cell Genomics study that uses ssDNA '2-end' and novel '4-end' sequencing to profile...

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00:24:43

332: When Chromatin Filters Force: Age, AP-1, and Fibroblast Mechanotransduction

Episode 332

April 02, 2026

332: When Chromatin Filters Force: Age, AP-1, and Fibroblast Mechanotransduction

Liao Y et al., PNAS - Human dermal fibroblasts from young and old donors were embedded in 3D collagen and exposed to mechanical tension...

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00:22:31

331: Bi-allelic NDUFA5 variants and complex I mitochondriopathy

Episode 331

March 31, 2026

331: Bi-allelic NDUFA5 variants and complex I mitochondriopathy

Tan et al et al., The American Journal of Human Genetics - This report identifies bi-allelic NDUFA5 variants in four individuals from three families...

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00:26:50