Base by Base

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 relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Avsnitt(445)

157: Synthetic Gametes and the Non-Identity Problem

157: Synthetic Gametes and the Non-Identity Problem

Villalba A et al., Trends in Genetics - A concise exploration of how synthetic DNA could enable engineered haploid gametes, why that possibility intensifies the philosophical non-identity problem, and...

4 Okt 202514min

156: ZFKLO[N, ZUF and TKZLO[N Systems

156: ZFKLO[N, ZUF and TKZLO[N Systems

Cheng Y et al., Cell - This episode summarizes a technical report focused on ZFKLO[N and its relationships with ZUF and TKZLO[N systems as presented in the provided PDF. The document documents repeate...

3 Okt 202517min

155: eIF3A/EIF3B haploinsufficiency and a syndromic cause of CHD

155: eIF3A/EIF3B haploinsufficiency and a syndromic cause of CHD

Erkut E et al., The American Journal of Human Genetics - This episode examines an international cohort of 18 individuals with de novo or loss-of-function variants in EIF3A or EIF3B who present with co...

2 Okt 202515min

154: Multiple-testing corrections in IBD-based selection scans

154: Multiple-testing corrections in IBD-based selection scans

Temple SD et al., The American Journal of Human Genetics - Temple and Browning model correlations of identity-by-descent (IBD) rates to derive analytical and simulation-based genome-wide significance ...

1 Okt 202520min

153: Skeletal muscle eQTLs map cardiometabolic genes

153: Skeletal muscle eQTLs map cardiometabolic genes

Wilson EPW et al., The American Journal of Human Genetics - This episode covers a skeletal muscle eQTL meta-analysis of 1,002 individuals that discovered 18,818 conditionally distinct regulatory signa...

30 Sep 202515min

152: Hereditary Alpha Tryptasemia: Single‑Well ddPCR Validation

152: Hereditary Alpha Tryptasemia: Single‑Well ddPCR Validation

Alheraky A et al., Clinical Chemistry - This episode reviews a validation study of a single-well multiplex ddPCR assay that quantifies TPSAB1 α- and β-tryptase copy numbers to diagnose hereditary alph...

29 Sep 202516min

151: EQA of ctDNA Molecular Tumor Profiling in the COIN Consortium

151: EQA of ctDNA Molecular Tumor Profiling in the COIN Consortium

van der Leest P et al., Clinical Chemistry - An interlaboratory external quality assessment across 16 laboratories in the Dutch COIN consortium evaluated how diverse (pre)analytical workflows and anal...

28 Sep 202516min

150: Patrilineal segmentary systems provide a peaceful explanation for the post‑Neolithic Y‑chromosome bottleneck

150: Patrilineal segmentary systems provide a peaceful explanation for the post‑Neolithic Y‑chromosome bottleneck

Guyon L et al., Nature Communications - Forward-time simulations and coalescent inference show that variance in reproductive success among patrilineal descent groups combined with lineal fission can p...

27 Sep 202517min

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