Posts by Base by Base
Base by Base cover: Diffusive spreading across dynamic mitochondrial network architectures
New PaperCast: how mitochondrial connectivity controls biomolecular mixing — a unifying model reveals social vs physical network regimes and cell-type predictions. Listen now
basebybase.com/episodes/diffusive-sprea...
@pnas.org
Base by Base cover: Palindromes and RNA Self-Recognition
Ep.346: How palindromic RNA sequences enable self-recognition and homotypic clustering in Drosophila germ granules — new PNAS study unpacked on PaperCast Base by Base. Listen
basebybase.com/episodes/palindromes-rna...
@pnas.org
Base by Base cover: Genes of Prosody: Rhythm, Music, and Reading
Episode 345: New GWAS links prosody perception to musical rhythm and reading via suggestive loci and songbird-related gene sets. Hear implications for language, music, and education on PaperCast Base by…
basebybase.com/episodes/genes-of-prosod...
@hggadvances.bsky.social
Base by Base cover: Homozygous TNNI3 p.Arg136* and severe pediatric restrictive cardiomyopathy
Episode 344: Homozygous TNNI3 p.Arg136* linked to severe pediatric restrictive cardiomyopathy and early transplant — listen to Base by Base for the findings and implications
basebybase.com/episodes/tnni3-arg136-pe...
Base by Base cover: From Cats to Dogs: The Parvovirus Host Jump
PaperCast Base by Base Ep343: How a feline parvovirus gave rise to canine parvovirus—distinct evolutionary rates, vaccine origins, and capsid adaptations unpacked. Listen
basebybase.com/episodes/feline-to-canin...
@pnas.org
Base by Base cover: Modular MPRA Reveals Context-Dependent Regulation at T2D Loci
New PaperCast Base by Base: a modular MPRA shows how promoter choice and fragment position reveal HNF1-dependent regulatory activity at T2D-linked noncoding regions—Listen now
basebybase.com/episodes/modular-mpra-t2...
@hggadvances.bsky.social
Base by Base cover: The Genetic Lottery and the Value of an Extra Year of School
New PaperCast Base by Base episode: MR using the genetic lottery finds one extra year of schooling raises earnings by ~8% and IRR exceeds market rates. Hear authors on methods, robustness, and policy implications
basebybase.com/episodes/genetic-lottery...
@pnas.org
Base by Base cover: cxt: A language model for population genetics
Episode 339: cxt translates mutations into coalescence times fast and at scale — a language model for population genetics. Hear how it generalizes across stdpopsim and empirical human/mosquito data. Listen
basebybase.com/episodes/cxt-language-mo...
@pnas.org
Base by Base cover: WDHD1 and Microcephalic Primordial Dwarfism
PaperCast Base by Base Ep338: AJHG study links bi-allelic WDHD1 variants to microcephalic primordial dwarfism and replisome defects in patient cells. Hear the genetics and cellular biology in this episode
basebybase.com/episodes/wdhd1-microceph...
@ajhgnews.bsky.social
Base by Base cover: ND-CNVs and internalizing–cardiometabolic multimorbidity
New PaperCast: Neurodevelopmental CNVs raise risk of co-occurring internalizing and cardiometabolic conditions, with stronger effects for deletions and in females — clinical monitoring implic…
basebybase.com/episodes/nd-cnv-internal...
@ajhgnews.bsky.social
Base by Base cover: Measuring disease likelihood in genomic ascertainment
Episode 336: How likely is disease after a genomic secondary finding? New AJHG study uses Bayesian family-based methods for BRCA1/2 and shows wide CMD probabilities; underuse of diagnostic tes…
basebybase.com/episodes/measuring-disea...
@ajhgnews.bsky.social
Base by Base cover: Altai Neandertal Genome Reveals Deep Population Structure
New PaperCast: a 110,000-year-old Altai Neandertal genome shows Denisovan gene flow and strong East–West Neandertal divergence. Hear episode 335
basebybase.com/episodes/d17-altai-neand...
@pnas.org
Base by Base cover: LINE-1 Recombination with Diverse RNAs
New PaperCast Ep.334: Comparative genomics uncovers hundreds of LINE-1 chimeras with small RNAs, Alu and mRNAs and a new TiMEstamp dating pipeline. Listen
basebybase.com/episodes/line1-recombina...
Base by Base cover: Holistic determination of cfDNA ends
PaperCast Base by Base Ep.333: Holistic profiling of cfDNA 5′/3′ and four‑end motifs boosts HCC detection (AUC up to 0.98) and maps nuclease activity. Tune in
basebybase.com/episodes/holistic-cfdna-...
Bone fragment from which 110,000-year-old Neandertal DNA was extracted. CREDIT: Diyendo Massilani.
A high-coverage genome of a male Neandertal extracted from a small bone fragment from Denisova Cave exhibits evidence of gene flow from Denisovans and is markedly different from the genomes of younger Western Neandertals in Europe. In PNAS: https://ow.ly/WIr450YBfBY
Base by Base cover: Bi-allelic NDUFA5 variants and complex I mitochondriopathy
Episode 331: Bi-allelic NDUFA5 variants cause complex I mitochondriopathy—multi-omic evidence and zebrafish validation. Hear the clinical and functional story on Base by Base.
basebybase.com/episodes/ndufa5-complex-...
@ajhgnews.bsky.social
Base by Base cover: Base by Base Ep.330 — 5ULTRA: Mapping 5′ UTR variants that alter protein translation
New PaperCast: 5ULTRA maps 5′ UTR variants that alter protein translation—ML-prioritized, validated by pQTL and MPRA, and applied to cancer, GWAS and rare-disease datasets. Hear the methods and examples
https://basebybase.com/episodes/5ultra-5utr-variants
@ajhgnews.bsky.social
Base by Base cover: Large future genetic diversity losses predicted despite habitat protection
Episode 329: New models predict significant future genetic diversity losses even with habitat protection—urgent implications for conservation policy. Listen
basebybase.com/episodes/predicting-gene...
@pnas.org
Capa do episodio Base by Base: Episode 328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization
🎧 New episode: Variant selection in cis‑MR using haptoglobin (HP) shows LD‑pruning, COJO, SuSiE and PCA with non‑lead variants boost R2 and MR precision — hear the methods and recommendations
basebybase.com/episodes/hp-variant-sele...
@hggadvances.bsky.social
Capa do episodio Base by Base: Episode 327: Bi-allelic ATG12 variants impair ATG12-ATG5 conjugation, LC3 lipidation and neural development
🎧 New PaperCast episode: Bi-allelic ATG12 variants disrupt ATG12‑ATG5 conjugation, impair autophagy and cause cerebellar vermis hypoplasia — hear the study breakdown
basebybase.com/episodes/biallelic-atg12...
@ajhgnews.bsky.social
Capa do episodio Base by Base: Episode 326: DUO-1 protects REC-8 cohesin and synaptonemal complex stability in Caenorhabditis elegans meiosis
🎧 DUO-1 keeps meiotic chromosomes intact in C. elegans—loss disrupts synaptonemal complex, cohesin, and compaction; listen to episode 326
https://basebybase.com/episodes/duo-1-c-elegans-meiosis
@pnas.org
Capa do episodio Base by Base: Episode 325: cis-pcQTL mapping reveals allelic proxitropy across neighboring human genes
🎧 cis-pcQTL mapping in human GTEx uncovers novel multi-gene regulatory variants and 33% more GWAS colocalizations than single-gene eQTLs — listen to episode 325
basebybase.com/episodes/cis-pcqtl-allel...
@ajhgnews.bsky.social
Call for Submissions | Science Communication Awards | Deadline to Apply April 3, 2026. National Academies of Sciences, Engineering, and Medicine logo. Schmidt Sciences logo.
🏆 Science communication awards now open!
Apply by April 3, 2026 for the SciComm Excellence awards, which honor science communicators, #journalists, and #researchers who communicated issues and advances in #science, #engineering, and #medicine in 2025
Apply now: https://ow.ly/U7KV50YxH0L
#scicomm
Capa do episodio Base by Base: Episode 324: ZSWIM8–CUL3 clamp on AGO2–miR-7 reveals mechanism of targeted microRNA degradation
🎧 How does ZSWIM8–CUL3 find the right AGO–miRNA to destroy? New episode breaks down the cryo-EM and reconstitution that reveal the TDMD authentication mechanism
basebybase.com/episodes/zswim8-cul3-tdm...
@nature.com
Capa do episodio Base by Base: Episode 323: Meat consumption and APOE ε3/ε4–ε4/ε4: slower cognitive decline and lower dementia risk in SNAC‑K
🎧 New episode: higher meat consumption linked to slower cognitive decline and lower dementia risk in APOE ε3/ε4–ε4/ε4 older adults — Listen now
basebybase.com/episodes/meat-apoe34-44-...
Capa do episodio Base by Base: Episode 322: Bi-allelic RNU6ATAC and RNU4ATAC variants cause infancy-onset autoimmune diabetes via minor spliceosome U12 intron retention
🎧 New PaperCast episode: bi-allelic RNU6ATAC & RNU4ATAC variants cause infancy-onset autoimmune diabetes via U12 intron retention and B cell defects — Listen now
basebybase.com/episodes/rnu6atac-rnu4at...
@ajhgnews.bsky.social
Capa do episodio Base by Base: Episode 321: Canonical nucleobases in asteroid (162173) Ryugu and ammonia-linked purine/pyrimidine ratios
🎧 Ryugu samples yield all five canonical nucleobases; HPLC/ESI-HRMS shows purine:pyrimidine ratios tied to ammonia, implying environment-driven formation
basebybase.com/episodes/ryugu-nucleobas...
@nature.com
Capa do episodio Base by Base: Episode 320: Sex-stratified cQTL mapping identifies TOX (IFN-Îł) and EGFR (IL-10) regulators in Dutch and Tanzanian cohorts
🎧 New PaperCast episode: sex-stratified cQTL mapping uncovers TOX-linked IFN-γ regulation in men and EGFR-linked IL-10 regulation in women across Dutch and Tanzanian cohorts
basebybase.com/episodes/sex-stratified-...