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(440)

398: Modeling JAK2V617F Clonal Expansion in the General Population

398: Modeling JAK2V617F Clonal Expansion in the General Population

Snyder J et al., Proceedings of the National Academy of Sciences (PNAS) - Longitudinal VAF measurements from 67 JAK2V617F-positive participants in the Danish GESUS study were analyzed with a Moran-pro...

21 Juni 24min

397: SciPhy: Bayesian phylogenetics for sequential genetic lineage tracing

397: SciPhy: Bayesian phylogenetics for sequential genetic lineage tracing

Seidel et al., Nature Communications - SciPhy is a BEAST2-integrated Bayesian framework that models sequential CRISPR‑based insertion edits to jointly infer time-scaled single-cell lineage trees, edit...

20 Juni 23min

396: Physical homology recognition between DNA duplexes

396: Physical homology recognition between DNA duplexes

Stannard A et al., Proceedings of the National Academy of Sciences (PNAS) - This episode summarizes a PNAS study that uses a FRET-responsive DNA tweezers nanosensor to detect and quantify sequence-dep...

18 Juni 23min

395: Extended sequence context shapes mutational bias in Escherichia coli

395: Extended sequence context shapes mutational bias in Escherichia coli

Green R et al., PNAS - Collating >100,000 base-pair substitutions from 32 mutation-accumulation experiments, this study shows that sequence context well beyond adjacent bases — up to ±6 bp and even hu...

18 Juni 22min

394: Benchmarking LLMs for cfRNA biomarker discovery

394: Benchmarking LLMs for cfRNA biomarker discovery

Gaudio HA et al., Nature Communications - This episode examines a systematic benchmark of six commercial large language models applied to plasma cell-free RNA across three clinical cohorts, assessing ...

17 Juni 22min

393: Hidden Resistance: tNGS Reveals Rifampicin and Bedaquiline Resistance in Eswatini

393: Hidden Resistance: tNGS Reveals Rifampicin and Bedaquiline Resistance in Eswatini

Vambe D et al., Nature Communications - This study reports the programmatic introduction of targeted next-generation sequencing (tNGS) in Eswatini and shows that tNGS detected large amounts of rifampi...

17 Juni 21min

392: GWAS of Cocaine Self-Administration in Heterogeneous Stock Rats

392: GWAS of Cocaine Self-Administration in Heterogeneous Stock Rats

Lara MK et al et al., Nature Communications - Large GWAS in 836 outbred HS rats identifies six loci linked to cocaine self-administration traits, highlighting Ces1 carboxylesterase genes and other loc...

12 Juni 23min

391: The Kaufmann Protocol — Why We Age and How to Stop It

391: The Kaufmann Protocol — Why We Age and How to Stop It

Dr. Sandra Kaufmann, The Kaufmann Anti-Aging Institute - Dr. Sandra Kaufmann — physician, scientist and athlete — set out to understand aging and fight it with science. This episode is a guided overvi...

12 Juni 1h 6min

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