Tag

Exome Sequencing

All articles tagged with #exome sequencing

science27 days ago•109 min saved

FNIP1 genetic variants linked to favorable metabolism in a million people

A large exome-sequencing study of 1,032,116 individuals uncovers rare FNIP1 coding variants associated with a favorable energy-metabolism state, measured by the triglyceride-to-HDL ratio. Follow-up experiments in human hepatocytes and mouse liver suggest that perturbing the FNIP–FLCN pathway enhances mitochondrial and lysosomal function and lipid catabolism, with downstream effects on insulin sensitivity and liver fat, offering mechanistic insight into genetic influences on cardiometabolic risk and liver–adipose communication.

via Nature|

#exome-sequencing #fnip1 #liver-metabolism

science3 months ago•5 min saved

MAL Blood Group Discovered, Ending a 50-Year AnWj Mystery

Scientists identified the genetic basis of the AnWj antigen, defining a new MAL blood group system after discovering MAL deletions cause AnWj-negativity; this enables improved screening for rare donors and safer transfusions, with MAL recognized as ISBT’s 47th blood group.

via SciTechDaily|

#anwj #blood-group #exome-sequencing

genetics5 months 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

medical-research3 years ago•44 min saved

Unveiling New Breast Cancer Genes: Exome Sequencing and Blood Test Reveal Significant Risk Factors

A meta-analysis of three large whole-exome sequencing datasets identified associations between protein-truncating variants (PTVs) and breast cancer risk for six known susceptibility genes (ATM, BRCA1, BRCA2, CHEK2, PALB2, and MAP3K1) at exome-wide significance. Associations were also observed for PTVs in LZTR1, ATR, and BARD1. Additionally, associations between predicted deleterious rare missense or PTVs and breast cancer were identified for CDKN2A at exome-wide significance. The overall contribution of coding variants in genes beyond the previously known genes is estimated to be small.

via Nature.com|

#breast-cancer #exome-sequencing #genetic-variants