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Tag: Genetics

Oncogenic Variants Identified in ~10 Percent With Appendix Cancer

Mutations identified in MUTYH, in the MLH1 gene, and in other cancer predisposition genes

Education Interacts With Genetic Variants to Increase Myopia Risk

Genotype by education interaction identified for five genetic variants, with increased effect for university-level education

Stable Neurodevelopment Seen for Most Children With Familial High Risk for Schizophrenia

12.8 percent of children with familial high risk for schizophrenia, bipolar disorder transition to different neurocognitive subgroup

AI Algorithm May ID Dysfunctional Immune Profiles in Acute Infection

Machine learning framework used to deploy quantitative sepsis response signature score, which was estimated using seven- or 12-gene signature

Causal Link Identified Between Bipolar Disorder, IBD

Genetically predicted BD significantly positively associated with risk for inflammatory bowel disease

New Platform Matches Patients to Precision Oncology Trials

Clinical trial consents happened 55 days sooner for patients using MatchMiner compared with those using non-MatchMiner channels

Genetic Predisposition to Smoking Causally Linked to Stroke Outcomes

Link remained significant in multivariable Mendelian randomization analyses adjusting for genetically predicted alcohol consumption

Polygenic Risk Score May Predict Sudden Death in Some CAD Patients

High GPSCAD may predict sudden and/or arrhythmic death in patients with coronary artery disease without severe systolic dysfunction

ABO Variants Linked to Risk for Early-Onset Ischemic Stroke

Variants tagging blood groups O1, A1 more strongly linked to early- versus late-onset stroke; genetic risk for VTE also linked to EOS

Cognition Studied in Children at Familial High Risk for Schizophrenia

Neurocognitive impairments noted in seven of 24 measures for children at familial high risk for schizophrenia versus population-based controls