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Tag: Genetics

Oncogenic Variants Identified in ~10 Percent With Appendix Cancer

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

Education Interacts With Genetic Variants to Increase Myopia Risk

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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

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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

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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

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

New Platform Matches Patients to Precision Oncology Trials

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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

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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

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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

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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

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