Vinod Scaria

The paper presents a comprehensive genomic atlas of Indian populations, identifying novel variants and highlighting genetic diversity and pharmacogenomic implications.

This study investigates syntenic lncRNAs across humans and zebrafish, finding they exhibit regulatory functions through DNA elements despite limited sequence conservation.

This paper identifies and functionally validates the scar-6 lncRNA locus, showing it regulates prozb expression and modulates coagulation and vascular function in zebrafish through epigenetic mechanisms.

This study identifies TAAL, a lncRNA that modulates Tie1 signaling and vascular function in diabetic retinopathy, showing its role in endothelial cell behavior and potential therapeutic relevance.

This paper introduces SNAPseq, a high-throughput NGS method for detecting β-thalassemia and sickle cell disease with 100% sensitivity and specificity using noninvasive samples.

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.

The paper investigates the prevalence and association of RFC1 tandem nucleotide repeat expansions with neurodegenerative diseases in an Indian cohort.

The paper compiles and annotates 1686 exonic variants in the HGD gene, creating a comprehensive database (AKUHub) for alkaptonuria with uniform pathogenicity classification.

The paper reports genome sequences of Lumpy Skin Disease Virus from an outbreak in India, finding a distinct lineage with significant genetic variations compared to the reference genome.

The paper identifies a distinct phylogenetic cluster of monkeypox virus genomes, lineage A.2, which differs from the dominant lineage B.1 associated with the 2022 European outbreak.

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.

This study analyzes Indian genetic variations in the kinome to identify sequence, structural, and pharmacogenomic differences compared to global datasets, highlighting implications for drug safety and adverse reactions.

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 identifies a novel 5,296 bp deletion in the BTK gene in an Indian family with X-linked agammaglobulinemia through whole genome sequencing and carrier screening.

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 shows chronic IL6 overexpression in zebrafish causes liver fat accumulation through glycolysis deregulation, suggesting inflammation as a cause for obesity-independent NAFLD.

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 identifies and characterizes circular RNAs in rat using multiple computational pipelines and validates some candidates through experimental methods.

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.

The paper analyzes SARS-CoV-2 genomes from India, identifying a distinct phylogenetic cluster (Clade I/A3i) that accounts for 41% of Indian isolates and 3.5% globally.

This paper analyzes the genome and transcriptome of Maconellicoccus hirsutus to study genomic imprinting and its relation to sex determination and pesticide resistance.

The paper curates and prioritizes drug-like Nipah Virus inhibitors using computational analysis and filters to identify non-toxic, effective compounds.

This study compares DNA methylation patterns between embryo and adult stages of Drosophila melanogaster and identifies differentially methylated regions associated with cell cycle and cytoskeletal functions.