Publications by authors named "K Shakir"

Collagen is used for a variety of biomedical and pharmaceutical uses, such as osteoarthritis-related pain management, hypertension, tissue engineering, and human implants, and is generally derived from porcine or bovine. Collagen from these animals has limitations due to the risk of disease transmission and religious constraints. Therefore, this study investigated the extraction of collagen from catfish () waste.

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To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.

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Article Synopsis
  • Researchers analyzed genetic data from over 39,000 people to find new associations linked to glycemic traits and type 2 diabetes risk.
  • They discovered a specific variant (p.Pro50Thr) that increases fasting plasma insulin levels by 12%, particularly in individuals of Finnish descent.
  • This variant is associated with lower insulin sensitivity and a slightly higher risk of developing type 2 diabetes, highlighting its functional impact in glucose regulation.
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Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence.

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