Daniel Taliun

Empirical estimation of multiple-testing burden for population-based HLA association studies using sequencing-derived HLA alleles across genetic ancestries

The paper estimates the multiple-testing burden for HLA association studies across genetic ancestries and shows it remains stable across minor allele counts, supporting Bonferroni correction based on total tested alleles.

samsampleX: Distribution-aware downsampling for benchmarking next-generation sequencing data

samsampleX improves benchmarking of NGS data by simulating realistic coverage distributions through distribution-aware downsampling, outperforming uniform methods in preserving depth variability.

Phenome-wide Mendelian randomization identifying circulating proteins for cardiovascular traits in populations of African ancestry

This study uses Mendelian randomization to identify circulating proteins associated with cardiovascular traits in African-ancestry populations and finds four proteins uniquely linked to lipids and heart diseases in this group.

A multi-ancestry genetic reference for the Quebec population

The paper constructs a genetic reference panel for the Quebec population using whole-genome sequencing and GWAS to improve phenotype-genotype association discovery.

BlueNuclei: automated identification and classification of live and dead transfected neurons using interpretable features

BlueNuclei automates the identification and classification of live and dead transfected neurons using interpretable features, achieving near-human accuracy with faster processing than deep learning alternatives.

An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant

The paper estimates an elevated birth prevalence of Fraser syndrome in Quebec's French-Canadian population and identifies a founder pathogenic variant.

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases

The paper identifies enriched coding variants in a French-Canadian founder population and explores their association with inflammatory bowel diseases.

Using the ancestral recombination graph to study the history of rare variants in founder populations

This paper uses ancestral recombination graphs to impute and trace rare variants in founder populations, showing high accuracy in mutation age and regional frequency estimation.

WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

WEGS combines low-depth whole genome and high-depth whole exome sequencing to reduce costs while maintaining variant detection accuracy in genetic studies.

Rare splice and missense variants with evidence of pathogenicity in consanguineous families with autosomal recessive intellectual disability from Pakistan

Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications

This study identifies 1,289 genetic signals for type 2 diabetes in 2.5 million individuals, revealing distinct clusters linked to vascular complications and highlighting ancestry-specific genetic risk factors.

HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank

This study uses whole-exome sequencing to directly call HLA alleles in the UK Biobank, identifying 129 novel associations between HLA alleles and 11 autoimmune diseases.

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

LocusZoom.js: Interactive and embeddable visualization of genetic association study results

LocusZoom.js provides an interactive web-based tool for visualizing genetic association study results with customizable views and integration of biological data.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

Cancer PRSweb - an Online Repository with Polygenic Risk Scores (PRS) for Major Cancer Traits and Their Phenome-wide Exploration in Two Independent Biobanks

The paper introduces Cancer-PRSweb, an online repository of polygenic risk scores for cancer traits, evaluated in two biobanks with predictive performance metrics and phenome-wide association studies.

De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

Imputation aware tag SNP selection to improve power for multi-ethnic association studies

This paper develops a method to select tag SNPs for multi-ethnic association studies, showing improved imputation power by considering population-specific linkage disequilibrium and demographic impacts.

emeraLD: Rapid Linkage Disequilibrium Estimation with Massive Data Sets

emeraLD rapidly estimates linkage disequilibrium using sparsity and haplotype structure, improving efficiency for large genetic datasets.

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.