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 Huhti 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 Huhti 24min
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 Huhti 0s
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 Huhti 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 Maalis 26min
330: 5ULTRA: Mapping 5′ UTR variants that alter protein translation
Chaldebas M et al., The American Journal of Human Genetics - Chaldebas et al. present 5ULTRA, a computational pipeline that integrates uORF databases, Kozak-motif features, splicing prediction, and a ...
30 Maalis 22min
329: Large future genetic diversity losses predicted despite habitat protection
Mualim KS et al., Proceedings of the National Academy of Sciences - This study develops spatiotemporal population-genetic models calibrated with genomic data to predict how habitat loss and fragmentat...
30 Maalis 22min
328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization
Zhou A et al., Human Genetics and Genomics Advances - Comparing LD‑pruning, COJO, SuSiE and PCA in haptoglobin (HP) cis‑region data, the study finds including non‑lead variants substantially increases...
27 Maalis 23min
