Home to a culturally heterogeneous population, India is also a melting pot of genetic
diversity. The population architecture characterized by multiple endogamous groups with …

Asians as a group comprise> 60% the world's population. There is an incredible amount of
diversity in Asian and admixed populations that has not been addressed in a …

Importance Racial and ethnic disparities persist in the incidence and treatment outcomes of
childhood acute lymphoblastic leukemia (ALL). However, there is a paucity of data …

Given the genomic uniqueness, a local data set is most desired for Indians, who are
underrepresented in existing public databases. We hypothesize patients with rare …

Abstract Bardet‐Biedl syndrome (BBS), a rare primary form of ciliopathy, with heterogeneous
clinical and genetic presentation is characterized by rod cone dystrophy, obesity …

Recent studies have identified SOD1, FUS, TARDBP and C9orf72 as major ALS-related
genes in both European and Asian populations. However, significant differences exist in the …

There have been concerted efforts toward cataloging rare and deleterious variants in
different world populations using high‐throughput genotyping and sequencing‐based …

Today, genomic data holds great potential to improve healthcare strategies across various
dimensions–be it disease prevention, enhanced diagnosis, or optimized treatment. The …

Background Population variant analysis is of great importance for gathering insights into the
links between human genotype and phenotype. The 1000 Genomes Project established a …

The aim of this study was to assess the prevalence of pathogenic variants in the SRD5A2
gene in children with 46, XY disorders of sex development (DSD) with normal to high serum …