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Posts by Base by Base

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1 day ago 0 0 0 0
Base by Base cover: Diffusive spreading across dynamic mitochondrial network architectures

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

1 day ago 0 0 0 0
Base by Base cover: Palindromes and RNA Self-Recognition

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

1 day ago 0 0 0 0
Base by Base cover: Genes of Prosody: Rhythm, Music, and Reading

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

3 days ago 0 1 0 0
Base by Base cover: Homozygous TNNI3 p.Arg136* and severe pediatric restrictive cardiomyopathy

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...

3 days ago 0 0 0 0
Base by Base cover: From Cats to Dogs: The Parvovirus Host Jump

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

5 days ago 0 0 0 0
Base by Base cover: Modular MPRA Reveals Context-Dependent Regulation at T2D Loci

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

6 days ago 0 1 0 0
Base by Base cover: The Genetic Lottery and the Value of an Extra Year of School

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

1 week ago 0 0 0 0
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Base by Base cover: cxt: A language model for population genetics

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

1 week ago 0 0 0 0
Base by Base cover: WDHD1 and Microcephalic Primordial Dwarfism

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

1 week ago 0 1 0 0
Base by Base cover: ND-CNVs and internalizing–cardiometabolic multimorbidity

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

1 week ago 0 1 0 0
Base by Base cover: Measuring disease likelihood in genomic ascertainment

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

1 week ago 0 1 0 0
Base by Base cover: Altai Neandertal Genome Reveals Deep Population Structure

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

2 weeks ago 0 0 0 0
Base by Base cover: LINE-1 Recombination with Diverse RNAs

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...

2 weeks ago 0 0 0 0
Base by Base cover: Holistic determination of cfDNA ends

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-...

2 weeks ago 0 0 0 0
Bone fragment from which 110,000-year-old Neandertal DNA was extracted. 
CREDIT: Diyendo Massilani.

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

2 weeks ago 4 2 0 0
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Base by Base cover: Bi-allelic NDUFA5 variants and complex I mitochondriopathy

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

2 weeks ago 1 1 0 0
Preview
ASU professor outlines importance of including sex chromosomes in genetic screenings | ASU News If a doctor wants to assess a patient’s risk for getting a whole range of diseases, from cystic fibrosis to cancer, they have the incredible ability to do so by looking at the patient’s unique set of ...

Learn more in this interview w/ @sexchrlab.bsky.social

3 weeks ago 3 2 0 0
Base by Base cover: Base by Base Ep.330 — 5ULTRA: Mapping 5′ UTR variants that alter protein translation

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

3 weeks ago 1 1 0 0
Base by Base cover: Large future genetic diversity losses predicted despite habitat protection

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

3 weeks ago 0 0 0 0
Capa do episodio Base by Base: Episode 328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization

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

3 weeks ago 0 1 0 0
Capa do episodio Base by Base: Episode 327: Bi-allelic ATG12 variants impair ATG12-ATG5 conjugation, LC3 lipidation and neural development

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

3 weeks ago 1 1 0 0
Capa do episodio Base by Base: Episode 326: DUO-1 protects REC-8 cohesin and synaptonemal complex stability in Caenorhabditis elegans meiosis

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

3 weeks ago 0 0 0 0
Capa do episodio Base by Base: Episode 325: cis-pcQTL mapping reveals allelic proxitropy across neighboring human genes

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

3 weeks ago 0 1 0 0
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Call for Submissions | Science Communication Awards | Deadline to Apply April 3, 2026. National Academies of Sciences, Engineering, and Medicine logo. Schmidt Sciences logo.

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

3 weeks ago 6 2 0 1
Capa do episodio Base by Base: Episode 324: ZSWIM8–CUL3 clamp on AGO2–miR-7 reveals mechanism of targeted microRNA degradation

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

4 weeks ago 0 0 0 0
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

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-...

4 weeks ago 0 0 0 0
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

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

4 weeks ago 0 1 0 0
Capa do episodio Base by Base: Episode 321: Canonical nucleobases in asteroid (162173) Ryugu and ammonia-linked purine/pyrimidine ratios

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

4 weeks ago 0 0 0 0
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

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-...

1 month ago 0 0 0 0