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DALIA- 阿拉伯人群疾病等位基因的综合资源。

DALIA- a comprehensive resource of Disease Alleles in Arab population.

机构信息

CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.

Amity University, Noida, India.

出版信息

PLoS One. 2021 Jan 13;16(1):e0244567. doi: 10.1371/journal.pone.0244567. eCollection 2021.

Abstract

The Arab population encompasses over 420 million people characterized by genetic admixture and a consequent rich genetic diversity. A number of genetic diseases have been reported for the first time from the population. Additionally a high prevalence of some genetic diseases including autosomal recessive disorders such as hemoglobinopathies and familial mediterranean fever have been found in the population and across the region. There is a paucity of databases cataloguing genetic variants of clinical relevance from the population. The availability of such a catalog could have implications in precise diagnosis, genetic epidemiology and prevention of disease. To fill in the gap, we have compiled DALIA, a comprehensive compendium of genetic variants reported in literature and implicated in genetic diseases reported from the Arab population. The database aims to act as an effective resource for population-scale and sub-population specific variant analyses, enabling a ready reference aiding clinical interpretation of genetic variants, genetic epidemiology, as well as facilitating rapid screening and a quick reference for evaluating evidence on genetic diseases.

摘要

阿拉伯人口超过 4.2 亿,其特点是基因混合,因此具有丰富的遗传多样性。该人群中首次报道了许多遗传疾病。此外,人群和整个地区还存在一些遗传疾病的高发,包括常染色体隐性疾病,如血红蛋白病和家族性地中海热。该人群中与临床相关的遗传变异的数据库很少。提供这样一个目录可能对精确诊断、遗传流行病学和疾病预防有影响。为了填补这一空白,我们编制了 DALIA,这是一个综合文献中报道的、与阿拉伯人群中报道的遗传疾病相关的遗传变异的编目。该数据库旨在作为人群规模和亚人群特定变异分析的有效资源,为临床解释遗传变异、遗传流行病学提供方便的参考,以及促进遗传疾病证据的快速筛选和快速参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/071e/7806169/c4abaaf4250a/pone.0244567.g001.jpg

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