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New research uncovers autozygosity's impact on common disease risks

Researchers explored the associations between autozygosity, measured as the fraction of the genome in runs of homozygosity (FROH), and common diseases, focusing on populations with high consanguinity rates. ....

Saudi Arabia , United Kingdom , Saudi Arabian , Ministocker Shutterstock , National Health Service , South Asia , United Kingdom Biobank , South Asian , British South Asians , Population Attributable Risk , Type 2 Diabetes , K Biobank ,

New method for multiancestry polygenic prediction holds promise for reducing health care disparities

A team led by researchers at Johns Hopkins Bloomberg School of Public Health and the National Cancer Institute has developed a new algorithm for genetic risk-scoring for major diseases across diverse ancestry populations that holds promise for reducing health care disparities. ....

Jingning Zhang , Zhaoyu Zhang , Nilanjan Chatterjee , Xihong Lin , Thomas Ahearn , Tony Chen , Jared Oconnell , Wenxuan Lu , Bertram Koelsch , Lily Ramsey , Zhi Yu , Yunxuan Jiang , Dayne Okuhara , Ruzhang Zhao , Jianan Zhan , Johns Hopkins Bloomberg School Of Public Health , Global Lipids Genetics Consortium , National Institutes Of Health All Us , National Cancer Institute , National Institutes Of Health , Bloomberg School , Bloomberg School Department Of Biostatistics , Me Inc , Me Research Team , Johns Hopkins Bloomberg School , Public Health ,

Rare genetic variants involved in male-pattern hair loss identified

A receding hairline, a total loss of hair from the crown, and ultimately, the classical horseshoe-shaped pattern of baldness: Previous research into male pattern hair loss, also termed androgenetic alopecia, has implicated multiple common genetic variants. ....

Nordrhein Westfalen , Stefanie Heilmann Heimbach , Sabrina Henne , Danielle Ellis , University Of Bonn , University Hospital Of Bonn , Faculty Of The University Bonn , Transdisciplinary Research Area , Institute Of Genomic Statistics , Institute Of Human Genetics , Nature Communications , University Hospital Marburg , University Hospital , Transdisciplinary Research Unit , United Kingdom Biobank , Human Genetics , Genomic Statistics , Medical Faculty , Hair Loss , K Biobank ,

AlphaMissense revolutionizes genetic mutation analysis for disease prediction

AlphaMissense, an adaptation of AlphaFold, offers a highly accurate model for predicting the pathogenicity of human proteome-wide missense variants at the single amino acid level. The model outperforms existing methods, providing valuable insights for diagnosing rare diseases and developing targeted therapies. ....

Google Deepmind Googledeepmind , American College Of Medical Genetics , Image Credit , Google Deepmind , Variant Effect , American College , Medical Genetics , Amino Acid ,

Study Confirms Retinal Structural Associations Between Retinitis Pigmentosa, Macular Edema

Researchers also suggest potential new genetic associations with macular edema, which warrant further research. ....

Cohen Kappa , Scientific Reports , Macular Edema ,