Genetic and Genomic MedicineReassessing Loss of Function Variants in GeneticsNew framework improves accuracy in interpreting pLoF genetic variants.
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Study reveals diversity in CFTR variants impacting cystic fibrosis diagnosis and treatment.
― 6 min read
New research reveals a polygenic risk score for hypertrophic cardiomyopathy.
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New findings shed light on the genetic basis and prevalence of cardiomyopathies.
― 8 min read
Research reveals links between menopause timing, genetics, and health risks.
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Research reveals critical variants affecting nephrotic syndrome linked to the WT1 gene.
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Study assesses polygenic risk scores for diverse ethnic groups in health outcomes.
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Researchers investigate genetic factors linked to ovarian cancer development.
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Research highlights DNA markers as tools for better health risk assessment.
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New frameworks enhance genetic risk assessments for better health outcomes.
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Research reveals new ways to identify drug targets through genetic data.
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An overview of Gaucher disease, symptoms, treatment, and risk factors for AVN.
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A closer look at EDS and its connection to dysautonomia.
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PDIVAS enhances identification of harmful genetic variants for better patient outcomes.
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GenePy reveals missed genetic diagnoses for rare diseases in 100,000 Genomes data.
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Exploring how joint models link genetic factors to health outcomes over time.
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Research reveals genetic factors influencing Type 2 diabetes across diverse populations.
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New insights on genetic testing for inherited heart disorders.
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Research reveals genetic factors influencing frailty among older adults.
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Genomics plays a key role in diagnosing and treating health conditions.
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Study reveals genetic factors affecting COVID-19 illness severity and infection chances.
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New study links genetic traits to cancer risks, paving the way for prevention strategies.
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Researchers use imaging data to find genetic links related to health.
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Research reveals shared genetic factors among various neurodegenerative diseases.
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High rates of genetic disorders among Emiratis due to cultural practices and advances in healthcare.
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Discover how trumpet plots enhance understanding of genetic variation.
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New research uncovers genetic changes linked to malignant pleural mesothelioma.
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Study reveals genetics play a key role in neurodevelopmental disorders.
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Research reveals the role of copper-related genes in clear cell renal cell carcinoma.
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Study reveals genetic links to alcohol flushing in East Asian men.
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Aging affects disease groupings, offering insights for personalized healthcare.
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New research highlights genetic factors linked to hearing loss in older adults.
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Study uncovers methylation differences in Down syndrome affecting heart defects.
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A study reveals how variants affect antibody treatment outcomes.
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A study highlights genetic risks for Parkinson's disease in African populations.
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Research reveals how smoking and drinking affect blood traits through genetics.
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UPDOG enhances polygenic scores for diverse populations, aiming for better healthcare outcomes.
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Research reveals complex gene relationships in Alzheimer's, highlighting unique interactions in brain cells.
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Addressing disparities in breast cancer care through genetic screening.
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This study investigates genetic factors in the infrapatellar fat pad related to osteoarthritis.
― 6 min read