314: Proactive Genomic Reanalysis at Boston Children’s: VS-NN, HPO NLP and DRAGEN find diagnoses in pediatric ES/GS
Rockowitz S et al., Human Genetics and Genomics Advances - Boston Children's Hospital used VS-NN, HPO NLP, and DRAGEN reprocessing in a proactive genomic reanalysis to identify candidate diagnoses in ...
11 Mar 22min
313: Integrating Polygenic Risk Scores and Social Determinants of Health across Populations
Cromer SJ et al., The American Journal of Human Genetics - This paper reviews polygenic risk scores (PRS) and social determinants of health (SDoH) and outlines best practices for integrating PRS and S...
10 Mar 24min
312: Mfsd2a transports LPC to maintain epidermal linoleate pools and desquamation
Wong BHH et al., Proc. Natl. Acad. Sci. U.S.A - Mouse and human studies show the LPC transporter Mfsd2a enables plasma-derived LPC uptake into keratinocytes, preserving linoleate-rich phosphatidylchol...
9 Mar 14min
311: mtG3PDH (GPO1) loss in Drosophila impairs mitochondrial ATP/O, O2 consumption, and ROS
Herpe L et al., Proc. Natl. Acad. Sci. U.S.A - CRISPR knockout of Drosophila mtG3PDH (GPO1) reduces ATP production by ~60% and O2 consumption by ~33%, lowering mitochondrial efficiency and ROS emissio...
8 Mar 42min
310: Infant gut microbiota restoration — maternal FMT, Bifidobacterium and Bacteroides recovery after C‑section
Korpela K et al., Gut Microbes - Review finds maternal fecal microbiota transplantation and targeted probiotics can restore Bifidobacterium and Bacteroides after C‑section or intrapartum antibiotics, ...
7 Mar 49min
309: LASI-DAD 2,680-sample WGS panel boosts LD maps, imputation, and PRS in Indian genomes
Li Z et al., Human Genetics and Genomics Advances - LASI-DAD 30× whole-genome sequencing of 2,680 Indian participants produced a 69.5M-variant LD panel that improves genotype imputation accuracy and P...
6 Mar 23min
308: PANDORA-seq reveals conserved rsRNA length shift and tsRNA/rsRNA aging cliff in mouse and human sperm
Shi J et al., The EMBO Journal, doi:10.1038/s44318-025-00687-8 - PANDORA-seq profiling of mouse and human sperm heads identifies a conserved rsRNA length shift with age and a tsRNA/rsRNA 'aging cliff'...
5 Mar 22min
307: SNIPE membrane nuclease cleaves phage λ DNA during ManYZ-mediated genome injection in Escherichia coli
Saxton DS et al., Nature, doi:10.1038/s41586-026-10207-1 - In E. coli, the membrane-bound nuclease SNIPE directly cleaves incoming phage λ DNA during genome injection, blocking infection via ManYZ and...
4 Mar 27min
