338: WDHD1 and Microcephalic Primordial Dwarfism
Tibbe D et al., The American Journal of Human Genetics - This study identifies bi-allelic hypomorphic WDHD1 variants in 17 subjects with a clinical spectrum from fetal lethality to microcephalic primo...
10 Apr 21min
337: ND-CNVs and internalizing–cardiometabolic multimorbidity
Katzourou IK et al., The American Journal of Human Genetics - Population analysis of ~459,000 UK Biobank participants shows that carriers of neurodevelopmental CNVs (ND-CNVs) have higher odds of co-oc...
8 Apr 22min
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 Bayesian approach that integrates variant, fam...
7 Apr 24min
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 Cave. The genome shows D17 is closely related to an e...
5 Apr 23min
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 discovers hundreds of LINE-1 chime...
5 Apr 21min
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 native 5′ and 3′ termini of plasma cfDNA. The work identifies...
4 Apr 24min
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 and TGF-β. Combining bulk RNA‑seq, ATAC‑seq, imaging, and pertur...
2 Apr 22min
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 causing an isolated mitochondrial complex I deficie...
31 Mars 26min
