Ryan S. Dhindsa

Host control and regulation of human anellovirus persistence

This study identifies host factors and cellular contexts governing anellovirus persistence through genomic, transcriptomic, and functional analyses.

Genome-scale perturbation signatures from primary human CD4+ T cells improve genetics-based prioritization of immune drug targets

The paper introduces IGNITE, a framework that combines genetic data with functional genomics to prioritize immune drug targets, showing improved performance over genetic methods alone.

Local ancestry-informed rare variant burden testing improves gene discovery in admixed populations

Tractor-Burden improves gene discovery in admixed populations by incorporating local ancestry in rare variant burden testing, identifying additional genes and pathways for type 2 diabetes.

The Impact of Non-coding G-quadruplex Variants on Human Traits and Disease Susceptibility

The paper identifies non-coding G-quadruplex variants associated with plasma proteins and clinical traits, showing stronger signals when considering G4 stability impacts and integrating with protein-truncating variants.

Resolving human neuronal herpesvirus reactivation via petabase-scale association studies

The paper identifies HSV-1 reactivation in healthy brain tissue using petabase-scale sequencing data and links it to neuronal loss in dementia.

Population-scale sequencing resolves correlates and determinants of latent Epstein-Barr Virus infection

The paper uses population-scale whole genome sequencing to identify EBV DNA as a biomarker for respiratory, autoimmune, and cardiovascular diseases and identifies genetic determinants of EBV persistence.

Biliverdin Reductase A is a major determinant of neuroprotective Nrf2 signaling

This paper identifies a novel non-enzymatic role for BVRA in modulating Nrf2 signaling, revealing its importance in neuroprotection and potential as a therapeutic target for neurodegenerative diseases.

Diverse ancestral representation improves genetic intolerance metrics

This study shows that genetic diversity improves the performance of intolerance metrics in identifying disease-related genes, with multi-ancestry data outperforming European-only datasets.

Genome-wide prediction of dominant and recessive neurodevelopmental disorder risk genes

This paper develops machine learning models to predict neurodevelopmental disorder risk genes using single-cell RNA-seq data and inheritance patterns, achieving high predictive accuracy.

Comparative analysis of 136,401 Admixed Americans and 419,228 Europeans reveals ancestry-specific genetic determinants of clonal haematopoiesis

This study compares clonal haematopoiesis (CH) between admixed Americans and Europeans, finding ancestry-specific genetic factors and lower CH prevalence in admixed populations.

Applying Machine Learning on UK Biobank biomarker data empowers case-control discovery yield

The paper uses machine learning to identify undiagnosed cases in UK Biobank data, improving gene-disease associations and discovering novel relationships.

Genetic architecture of telomere length in 462,675 UK Biobank whole-genome sequences

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

Codon affinity in mitochondrial DNA shapes evolutionary and somatic fitness

The paper identifies a synonymous mtDNA variant that affects codon-anticodon affinity and shows its impact on cellular fitness in immune cells.

A minimal role for synonymous variation in human disease

The paper cautions against interpreting a yeast study claiming synonymous mutations are as disease-causing as nonsynonymous ones, given existing evidence for their predominant neutrality in humans.

Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

Cancer-driving mutations are enriched in genic regions intolerant to germline variation

The paper introduces OncMTR, a metric identifying genic regions intolerant to germline variation but enriched for cancer-driving mutations, and shows it improves genetic signal detection for hematologic malignancies.

Biliverdin reductase bridges focal adhesion kinase to Src to modulate synaptic signaling

This study identifies biliverdin reductase (BVR) as a bridge between FAK/Pyk2 and Src, showing its role in synaptic signaling and learning/memory deficits in BVR-null mice.

Ancestry adjustment improves genome-wide estimates of regional intolerance

This study shows that adjusting for ancestry improves genome-wide estimates of regional intolerance by incorporating demographic history, leading to better variant classification.

Assessing the contribution of rare-to-common protein-coding variants to circulating metabolic biomarker levels via 412,394 UK Biobank exome sequences

The paper assesses the contribution of rare-to-common protein-coding variants to metabolic biomarker levels using UK Biobank exome sequences and identifies novel gene-biomarker relationships.

Human genetic evidence supports MAP3K15 inhibition as a therapeutic strategy for diabetes

The paper identifies MAP3K15 as a protective gene for diabetes through genetic analysis and shows its inhibition could be a therapeutic strategy.

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants

This study uses exome sequencing of 177,882 UK Biobank participants to assess the role of rare variants in 10,533 phenotypes, identifying 911 significant gene-phenotype relationships.

Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

The paper identifies a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis through genome-wide association analysis.

Natural selection shapes codon usage in the human genome

The paper shows natural selection optimizes codon usage in the human genome, with dosage-sensitive and cell cycle genes being more intolerant to synonymous variation.

Establishing a transcriptome-based drug discovery paradigm for neurodevelopmental disorders

This paper proposes a transcriptome reversal approach for drug discovery in neurodevelopmental disorders to identify compounds that reverse disease-associated gene-expression signatures.

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency

This study examines HNRNPU haploinsufficiency in mice, identifying neuroanatomical and transcriptomic changes, and highlights cell-type-specific gene expression dysregulation in excitatory neurons.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

G protein-coupled potassium channels implicated in mouse and cellular models of GNB1 Encephalopathy

This study identifies GNB1 mutations causing neurodevelopmental disorder and shows ethosuximide effectively treats symptoms in mouse and cellular models.

meaRtools: an R Package for the Analysis of Neuronal Networks Recorded on Microelectrode Arrays

The paper introduces meaRtools, an R package for analyzing neuronal network data from microelectrode arrays, demonstrating its ability to identify epilepsy-like phenotypes in Celf4 knockout mice.