Bhooma Thiruvahindrapuram

The paper identifies ancestry-specific genetic loci associated with autism spectrum disorder using admixture mapping across diverse populations.

This study identifies rare tandem repeat expansions (TREs) in TOF patients, showing their enrichment in regulatory regions and association with DNA methylation and transcriptional changes.

The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.

The paper revises a human diploid genome assembly using a scalable workflow with Oxford Nanopore reads, achieving high accuracy and contiguity without ultra-long reads or other technologies.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

The paper re-evaluates genome-wide significance thresholds for low-frequency variants in autism, identifying novel variants and their functional roles.

GWAS SVatalog identifies structural variations linked to GWAS loci by visualizing LD between SVs and SNPs across 14,479 phenotypes.

PangyPlot is a genome browser that simplifies exploration of pangenome graphs, enabling visualization of genetic variation in populations with diverse haplotypes.

The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

The paper develops a method to analyze genomic deletions and duplications across the cerebral cortex and finds opposing effects on cognitive ability depending on gene expression patterns in different cortical regions.

This study performs an X chromosome-wide association study (XWAS) in ASD, identifying 59 variants associated with ASD, including novel candidate genes like FGF13.

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

The paper assesses the impact of rare canonical splice site variants on splicing using functional and in silico methods, finding that 24% of variants do not cause loss-of-function.

The paper maps neuron-specific protein networks of autism risk genes, identifies shared biological mechanisms, and links them to disease-relevant pathologies.

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

The paper identifies genome-wide rare tandem repeat expansions associated with schizophrenia risk by comparing cases and controls.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

The paper uses linked-read sequencing to phase alleles in 477 CF patients, revealing haplotypes that explain disease mechanisms and contribute to understanding complex traits.

The paper identifies VNTRs near SLC9A3 associated with gene expression in CF nasal epithelia and shows their utility in explaining GWAS signals.

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

The paper identifies clinically relevant genetic variants in TOF patients and constructs a protein interaction network linking these variants to disease mechanisms.

This study uses CRISPR to knockout 10 ASD-related genes in iPSCs, revealing reduced functional connectivity in neurons despite diverse gene functions.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

The paper analyzes copy number variations in 100 twin pairs enriched for neurodevelopmental disorders, finding no postzygotic de novo CNVs but higher rates of CNVs overlapping nervous system genes in discordant pairs.

This study identifies eight genome-wide significant CNV loci associated with schizophrenia using a large cohort of 41,321 subjects.