31: Non-canonical FBN1 splicing in the 100k Genomes Project
Walker S et al., Genetics in Medicine - Genome sequencing of 78,195 participants in the 100,000 Genomes Project identified ultra-rare non-canonical FBN1 splice variants enriched among individuals recr...
5 Jun 202533min
30: Bi‑allelic POPDC2 variants and a recessive cardiac conduction syndrome
Nicastro M et al., The American Journal of Human Genetics - Researchers identify bi-allelic POPDC2 variants in multiple families causing sinus-node dysfunction, atrioventricular conduction defects and...
26 Mai 202526min
29: Rethinking Agency: Predictors of Genetic Testing Intention among Latinos
Chavez-Yenter D et al., Genetics in Medicine - A cross-sectional SEM study of 503 English-fluent Latino adults applied the Integrated Behavioral Model to identify predictors of intention for carrier s...
23 Mai 202516min
28: scPrediXcan: Deep learning meets single-cell TWAS
Zhou Y et al., Cell Genomics - This paper introduces scPrediXcan, which combines a deep-learning model (ctPred) built on Enformer-derived features with single-cell RNA-seq to perform cell-type-specifi...
22 Mai 202525min
27: ENVLPE+: Shuttling VLPs that load functional CRISPR RNPs
Geilenkeuser J et al., Cell - A Cell paper describing ENVLPE/ENVLPE+, virus-like particles engineered with nucleocytosolic-shuttling Gag-PCP to recruit aptamer-tagged (pe)gRNAs and preferentially pack...
21 Mai 202516min
26: Reannotation reveals functional non-coding mutations in melanoma
Pepe D et al., The American Journal of Human Genetics (112:1–21, June 5, 2025) - Pepe et al. show that annotating cancer mutations to the transcripts actually expressed in tumors uncovers previously o...
20 Mai 202515min
25: mtDNA discovery in Solve‑RD: phenotype‑driven reanalysis
Ratnaike et al et al., The American Journal of Human Genetics - A semi-automated mtDNA reanalysis pipeline using MToolBox and MitoPhen HPO-based phenotype similarity was applied to the Solve-RD cohort...
19 Mai 202516min
24: X chromosome and dosage-compensation in complex traits
Fu Y et al., The American Journal of Human Genetics - Fu et al. (2025) analyze large biobank datasets to quantify how the X chromosome contributes to complex trait heritability and how dosage-compensa...
18 Mai 202514min
