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Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India
Author(s) -
Narang Ankita,
Uppilli Bharathram,
Vivekanand Asokachandran,
Naushin Salwa,
Yadav Arti,
Singhal Khushboo,
Shamim Uzma,
Sharma Pooja,
Zahra Sana,
Mathur Aradhana,
Seth Malika,
Parveen Shaista,
Vats Archana,
Hillman Sara,
Dolma Padma,
Varma Binuja,
Jain Vandana,
Prasher Bhavana,
Sengupta Shantanu,
Mukerji Mitali,
Faruq Mohammed
Publication year - 2020
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.24102
Subject(s) - biology , genotyping , 1000 genomes project , genetics , genomics , population , founder effect , disease , genotype , evolutionary biology , genome , haplotype , single nucleotide polymorphism , medicine , gene , environmental health , pathology
Clinindb, a database to catalogue the allele frequencies of clinically relevant genetic variants among Indians, aims to fill the gap for representation of Indian subjects in public databases. Nearly, 20K clinically variants were analyzed for their polymorphocity across control cohort and among patients pool. It highlights the key differences observed while assessing the genetic variability and the general occurrences of those variants in Indian context. Clinindb will be utilized in present as well as future online resource for Monogenic (Mendelian variants) from India.