Tag

Rare Variants

All articles tagged with #rare variants

genetics14 days ago•61 min saved

Exome sequencing of 44,028 British South Asians uncovers thousands of rare knockouts and novel gene–phenotype links

Sequencing 44,028 British Pakistani/Bangladeshi volunteers with high autozygosity creates a large South Asian exome resource linked to health records, identifying ~4.7 million variants, 2,991 genes with rare biallelic loss-of-function genotypes (546 novel), and over 100 newly linked gene–phenotype associations. Meta-analysis with UK Biobank reinforced cardiometabolic signals, and analyses of recessive burdens and human knockouts illustrate how knockout genotypes can inform drug target safety and efficacy, aiding disease interpretation and guiding drug development. Data and code are publicly available via cloud and GitHub.

via nature.com|

#autozygosity #british-south-asians #exome-sequencing

health2 years ago•2 min saved

Global Impact: Unveiling the Prevalence of Rare Genetic Disorders

Researchers at the Children's Hospital of Philadelphia have identified a new genetic disorder that causes neurodevelopmental differences and abnormalities in the head, facial bones, and limbs. The disorder is believed to be caused by rare variants in the MAP4K4 gene, which is involved in signaling pathways related to normal cell growth. The researchers created a zebrafish model to confirm the gene's role in the disorder and suggest that it may be a valuable therapeutic target for other disorders as well. However, therapeutic interventions targeting MAP4K4 need to strike a balance between treating the disorder and avoiding an increased risk of cancer.

via Study Finds|

#genetic-disorder #health #map4k4-gene

genetics3 years ago•15 min saved

Improving rare variant association analyses with adjusted polygenic scores.

Adjusting for common variant polygenic scores can improve the yield in rare variant association analyses, according to a study using data from the UK Biobank. The researchers found that incorporating polygenic scores into the analysis increased the power to detect rare variant associations, particularly for traits with a strong polygenic component. The study highlights the importance of considering both common and rare genetic variation in association analyses and provides a resource for researchers to access the data and code used in the study.

via Nature.com|

#association-analysis #cardiovascular-disease #genetics