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GWAS

Building off ChatGPT Popularity, Generative AI Starts Finding its Place in Genome Informatics
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Bioinformaticians, researchers, and commercial software developers worldwide are trying to harness the power of generative AI for genomics without compromising scientific integrity.

Multi-Ancestry GWAS Improve Polygenic Risk Scores for Understudied Populations

Investigators led by a team at the Broad Institute used simulations and empirical analysis to compare the performance of PRS derived from single- and multi-ancestry GWAS.

Schizophrenia Risk Variants Functionally Validated With Massively Parallel Reporter Assay

Investigators used an MPRA to functionally validate more than 5,000 schizophrenia GWAS variants in primary human neural progenitor cells.

Hundreds of Hypertension-Related Effector Genes Identified in Genetic Fine-Mapping Study

Investigators used genetic fine mapping and multiomics to identify 436 blood pressure-related candidate effector genes, some of which could become drug targets. 

Esophageal Cancer Susceptibility Risk Variants Found in South African Population

Using GWAS data, researchers identified esophageal squamous cell carcinoma risk variants that overlap with those found in a high-risk population in China.

Aug 31, 2023

GWAS Meta-Analysis Identifies 26 Risk Loci Linked to Epilepsy

Aug 29, 2023

Study Finds Mechanism Linking Noncoding Risk Locus, Disease-Related Cellular Phenotypes

Aug 24, 2023

GWAS Links Gene Variant to Parkinson's Disease Risk in People of African Ancestry

Aug 10, 2023

Study Links Lung Cancer Risk to Genetic Variants Implicated in Alternative Splicing

Aug 4, 2023

Menopause GWAS Uncovers Genetic Contributors with Age-Specific Effects

Aug 2, 2023

Multiomics Helps Identify Potential Drug Targets for Dyslipidemia

Jul 21, 2023

Chinese Population Biobank Highlights Genetic Diversity, Disease Associations

Jul 20, 2023

GWAS of UK Biobank Participants Reveals Genetic Loci Linked to Human Skeletal Formation

Jul 18, 2023

Rare Urinary Bladder Disease GWAS Points to Importance of Autoimmunity, Inflammation

Jul 14, 2023

Participation in Genetic Studies Has Ties to DNA, UK Biobank Study Shows

Jul 11, 2023

Type 2 Diabetes, Osteoarthritis Comorbidity Traced to Obesity-Related Processes

Jun 29, 2023

Study Finds Genetic, Nongenetic Ties to Nonresponse Behavior in Surveys

Jun 28, 2023

Multiple Sclerosis GWAS Points to Role for Central Nervous System in Disease Severity, Progression

Jun 22, 2023

Nasopharyngeal Carcinoma Risk Genes Identified, Characterized

Jun 16, 2023

Study Compares Abilities of Various Genetic Approaches to Identify Drug Targets

Jun 15, 2023

Hand Condition Contributors Include Variants Passed Down From Neanderthals

Jun 9, 2023

GWAS Links Human Voice Pitch to Gene Influencing Cardiovascular, Hormonal Processes

May 31, 2023

Heart Disease Risk Variants, Genes Found in GWAS Meta-Analysis

May 25, 2023

Epilepsy Linked to Alzheimer's Disease Risk Variants in New Analysis

May 24, 2023

Blood Pressure Genetic Variants Linked to Regulatory Functions, Cardiovascular Pathways

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The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.