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This study explores donor-conceived families' experiences with unexpected recontact for inherited cardiac condition risk through interviews and thematic analysis.

This paper introduces Mendelnoulli, a longitudinal model that captures age-dependent effects of inherited variation on disease trajectories, showing improved discrimination and identification of disease risks.

This study evaluates the impact of Neanderthal ancestry on cancer risk by analyzing GWAS data and finds that Neanderthal variants are associated with both increased and decreased cancer risk, with some persisting due to adaptive pleiotropy.

This study examines rare gain- and loss-of-function variants across 18,214 genes using whole-exome sequencing and electronic health records to identify ancestry-specific and shared gene-variant associations with various traits.

This study identifies 86 gene-phenotype associations for cardiovascular diseases using whole-genome sequencing data from UK Biobank participants, including 46 novel associations and insights into sex-specific and ancestry-related genetic effects.

The paper identifies rare coding variants enriched in cognitive superagers by comparing whole-exome sequencing data to controls and a population reference database.

This study identifies genetic factors associated with self-reported SSRI response in depression using genome-wide meta-analysis and polygenic scores, highlighting GABAergic and glutamatergic pathways.

This study assesses cancer risk and survival in POT1 variant carriers across multiple biobanks and finds increased cancer incidence but no increased mortality.

This study uses polygenic scores to identify pleiotropic effects of psychiatric dimensions across medical and laboratory phenotypes, revealing biological links between mental health and physical conditions.

This study identifies genetic loci associated with early MS severity using genome-wide association analysis and finds candidate effector genes and pathways.

The paper develops a method to confirm potentially pathogenic variants from whole-genome sequencing using pooled multiplex amplicon sequencing, achieving high concordance with Sanger sequencing.

The paper evaluates the NeuroBooster Array's accuracy in detecting GBA1 variants, finding it correctly identifies most carriers but has notable false positives and missed calls.

This study shows that excluding low-frequency variants and indels in fine-mapping leads to false discoveries and introduces SuSiE-OUT to address this issue.

This study identifies inactivating CSTF2 variants in males with intellectual disability and shows they disrupt intronic polyadenylation patterns, linking CSTF2 to neurodevelopmental disorders.

This study identifies mQTLs for serum and urine metabolites across ancestries, revealing ancestry-specific genetic effects and linking them to disease traits.

This study identifies a pathogenic MYRF variant causing isolated nanophthalmos by showing it is cleavage deficient, mislocalized, and reduces transcriptional activity with SOX10.

This paper introduces a variant filtering framework called SMART filtering to improve diagnostic outcomes in genome sequencing by prioritizing non-coding and regulatory variants.

This paper improves depression prediction by integrating psychiatric traits, showing stronger associations across development, families, and populations.

This paper develops a stable polygenic risk score for colorectal cancer by integrating multiple existing scores, improving individual-level risk classification consistency without sacrificing population-level performance.

The paper reports three patients with inherited TNF deficiency who developed tuberculosis, showing TNF's essential role in immunity against M. tuberculosis.