Literature DB >> 33439861

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

Aastha Vatsyayan1,2, Parul Sharma3, Shrey Gupta3, Sumiti Sandhu4, Seetha Lakshmi Venu5, Vandana Sharma6, Bouabid Badaoui7, Kaidi Azedine7, Serti Youssef7, Anna Rajab8, Alaaeldin Fayez9, Seema Madinur10, Anop Ranawat1, Kavita Pandhare1, Srinivasan Ramachandran1,11, Sridhar Sivasubbu1,11, Vinod Scaria1,11.   

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.

Entities:  

Year:  2021        PMID: 33439861      PMCID: PMC7806169          DOI: 10.1371/journal.pone.0244567

Source DB:  PubMed          Journal:  PLoS One        ISSN: 1932-6203            Impact factor:   3.240


  34 in total

Review 1.  Genetic disorders in the Arab world.

Authors:  Lihadh Al-Gazali; Hanan Hamamy; Shaikha Al-Arrayad
Journal:  BMJ       Date:  2006-10-21

2.  Completed suicide and suicide attempts in the Arab population in Israel.

Authors:  A Brunstein Klomek; O Nakash; N Goldberger; Z Haklai; N Geraisy; U Yatzkar; A Birnai; I Levav
Journal:  Soc Psychiatry Psychiatr Epidemiol       Date:  2016-04-29       Impact factor: 4.328

3.  Pharmacogenomic survey of Qatari populations using whole-genome and exome sequences.

Authors:  Ambily Sivadas; Vinod Scaria
Journal:  Pharmacogenomics J       Date:  2018-05-03       Impact factor: 3.550

4.  SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.

Authors:  Judith Mary Hariprakash; Shamsudheen Karuthedath Vellarikkal; Ankit Verma; Anop Singh Ranawat; Rijith Jayarajan; Rowmika Ravi; Anoop Kumar; Vishal Dixit; Ambily Sivadas; Atul Kumar Kashyap; Vigneshwar Senthivel; Paras Sehgal; Vijayalakshmi Mahadevan; Vinod Scaria; Sridhar Sivasubbu
Journal:  Database (Oxford)       Date:  2018-01-01       Impact factor: 3.451

5.  CTGA: the database for genetic disorders in Arab populations.

Authors:  Ghazi O Tadmouri; Mahmoud Taleb Al Ali; Sarah Al-Haj Ali; Najib Al Khaja
Journal:  Nucleic Acids Res       Date:  2006-01-01       Impact factor: 16.971

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  Genetics of hearing loss in the Arab population of Northern Israel.

Authors:  Nada Danial-Farran; Zippora Brownstein; Suleyman Gulsuner; Luna Tammer; Morad Khayat; Ola Aleme; Elena Chervinsky; Olfat Aboleile Zoubi; Tom Walsh; Gil Ast; Mary-Claire King; Karen B Avraham; Stavit A Shalev
Journal:  Eur J Hum Genet       Date:  2018-08-23       Impact factor: 4.246

8.  Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Authors:  Nader Al-Dewik; Howaida Mohd; Mariam Al-Mureikhi; Rehab Ali; Fatma Al-Mesaifri; Laila Mahmoud; Noora Shahbeck; Karen El-Akouri; Mariam Almulla; Reem Al Sulaiman; Sara Musa; Ajayeb Al-Nabet Al-Marri; Gabriele Richard; Jane Juusola; Benjamin D Solomon; Fowzan S Alkuraya; Tawfeg Ben-Omran
Journal:  Am J Med Genet A       Date:  2019-03-27       Impact factor: 2.802

9.  CADD: predicting the deleteriousness of variants throughout the human genome.

Authors:  Philipp Rentzsch; Daniela Witten; Gregory M Cooper; Jay Shendure; Martin Kircher
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

10.  The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors:  Konrad J Karczewski; Laurent C Francioli; Grace Tiao; Beryl B Cummings; Jessica Alföldi; Qingbo Wang; Ryan L Collins; Kristen M Laricchia; Andrea Ganna; Daniel P Birnbaum; Laura D Gauthier; Harrison Brand; Matthew Solomonson; Nicholas A Watts; Daniel Rhodes; Moriel Singer-Berk; Eleina M England; Eleanor G Seaby; Jack A Kosmicki; Raymond K Walters; Katherine Tashman; Yossi Farjoun; Eric Banks; Timothy Poterba; Arcturus Wang; Cotton Seed; Nicola Whiffin; Jessica X Chong; Kaitlin E Samocha; Emma Pierce-Hoffman; Zachary Zappala; Anne H O'Donnell-Luria; Eric Vallabh Minikel; Ben Weisburd; Monkol Lek; James S Ware; Christopher Vittal; Irina M Armean; Louis Bergelson; Kristian Cibulskis; Kristen M Connolly; Miguel Covarrubias; Stacey Donnelly; Steven Ferriera; Stacey Gabriel; Jeff Gentry; Namrata Gupta; Thibault Jeandet; Diane Kaplan; Christopher Llanwarne; Ruchi Munshi; Sam Novod; Nikelle Petrillo; David Roazen; Valentin Ruano-Rubio; Andrea Saltzman; Molly Schleicher; Jose Soto; Kathleen Tibbetts; Charlotte Tolonen; Gordon Wade; Michael E Talkowski; Benjamin M Neale; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 69.504

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.