Mercy Rophina

This study characterizes blood group antigen variants in Middle Eastern populations using genomic data, identifies clinically significant alleles, and develops an online resource for transfusion research.

The paper curates and annotates 5118 pathogenic/likely pathogenic variants from 118 movement disorder-associated genes using ACMG & AMP guidelines, creating a comprehensive online compendium called DystoGen.

This study analyzes whole genome sequences of 1029 Indian individuals to characterize blood group antigens and alleles, identifying rare phenotypes and comparing them with global populations.

This study reports HNA allele and genotype frequencies in the Indian population using whole genome sequencing, finding significant differences in HNA5 variant prevalence compared to other global populations.

The paper analyzes genetic variants of human platelet antigens in 1029 Indian genomes to determine allele frequencies and compare them to global populations.

The paper highlights the need for an organized online repository to capture global frequency profiles of genetic variants associated with human neutrophil antigens.

This study identifies FDA-approved drugs that bind G-quadruplexes in SARS-CoV-2 genomes, showing significant inhibition of viral replication in hamsters and cell cultures comparable to Remdesivir.

BGvar compiles and curates blood group-related genomic variants into a resource for genomic analysis of blood group antigens.

The paper builds a database of SARS-CoV-2 immune escape variants, curating 5258 variants tested against 230 antibodies, plasma, and vaccine breakthroughs.

The paper analyzes SARS-CoV-2 isolates from Kerala, India, identifying 166 unique variants, including 4 novel ones, and reports on their genetic epidemiology and potential impact on diagnostics.

This study evaluates the COVIDSeq protocol for SARS-CoV-2 detection and genetic epidemiology, showing high concordance with RT-PCR and identifying novel variants and lineages.

This study sequenced SARS-CoV-2 genomes from Andhra Pradesh, identifying 564 variants including 15 novel ones and 4 associated with increased infectivity.

The paper investigates the genetic epidemiology of immune escape variants in SARS-CoV-2 genomes globally.

The paper analyzes genomic variants in SARS-CoV-2 isolates from India and their potential impact on molecular diagnostic assays.