Daniel Taliun
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View article: An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant
An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant Open
Purpose Fraser syndrome (FS) is an autosomal recessive disorder, characterized by cryptophthalmos, syndactyly, and anomalies of the respiratory and urogenital tracts. Here we estimate the birth prevalence of FS in the French-Canadian found…
View article: Exploring and visualizing stratified genome-wide association study results with PheWeb 2
Exploring and visualizing stratified genome-wide association study results with PheWeb 2 Open
The lack of functionalities in web-based tools for interacting with stratified genome-wide association study (GWAS) summary-level results is currently hindering researchers from advancing knowledge of ancestry and sex on the genetics of co…
View article: Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases Open
1 Abstract The genetic features of founder populations with recent bottlenecks, causing some deleterious variants to rise to higher frequencies, can enhance the power of rare variant association studies. French Canadians from Quebec repres…
View article: Phenome-wide Mendelian randomization identifying circulating proteins for cardiovascular traits in populations of African ancestry
Phenome-wide Mendelian randomization identifying circulating proteins for cardiovascular traits in populations of African ancestry Open
Background Circulating proteins represent robust drug targets with therapeutic potential. Many discoveries have focused on European-ancestry populations, disregarding minuscule yet substantial proteomic differences that may contribute to d…
View article: CRISPR-BEasy: a free web-based service for designing sgRNA tiling libraries for CRISPR-dependent base editing screens
CRISPR-BEasy: a free web-based service for designing sgRNA tiling libraries for CRISPR-dependent base editing screens Open
CRISPR-dependent base editing (BE) enables the modeling and correction of genetic mutations at single-base resolution. Base editing screens, where point mutations are queried en masse, are powerful tools to systematically draw genotype–phe…
View article: A multi-ancestry genetic reference for the Quebec population
A multi-ancestry genetic reference for the Quebec population Open
While international efforts have characterized genetic variation in millions of individuals, the interplay of environmental, social, cultural, and genetic factors is poorly understood for most worldwide populations. The province of Quebec …
View article: Using the ancestral recombination graph to study the history of rare variants in founder populations
Using the ancestral recombination graph to study the history of rare variants in founder populations Open
Gene genealogies represent the ancestry of a sample and are often encoded as ancestral recombination graphs (ARG). It has recently become possible to infer these gene genealogies from sequencing or genotyping data and use them for evolutio…
View article: Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers
Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers Open
Polygenic scores (PGS) enable the prediction of genetic predisposition for a wide range of traits and diseases by calculating the weighted sum of allele dosages for genetic variants associated with the trait or disease in question. Present…
View article: Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology Open
View article: A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome Open
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases. Yet, due to the prohibitive co…
View article: Rare splice and missense variants with evidence of pathogenicity in consanguineous families with autosomal recessive intellectual disability from Pakistan
Rare splice and missense variants with evidence of pathogenicity in consanguineous families with autosomal recessive intellectual disability from Pakistan Open
Intellectual disability (ID) is a neurodevelopmental disorder affecting up to 1-3% of people worldwide. Genetic factors, including rare de novo or rare homozygous mutations, explain many cases of autosomal dominant or recessive forms of ID…
View article: P710: Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank
P710: Phenome-wide association study (PheWAS) for the Canadian HostSeq Biobank Open
The HostSeq database is a repository containing genome sequencing (GS) results and harmonized clinical data for ∼10,000 Canadians infected with SARS-CoV-2 over the COVID-19 pandemic. HostSeq is being used to facilitate research efforts in …
View article: HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases
HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases Open
View article: WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome Open
0 Abstract Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases. Yet, due to the pro…
View article: Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications Open
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes. To characterise the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study (GW…
View article: The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits Open
View article: HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank
HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank Open
The human leukocyte antigen (HLA) region on chromosome 6 is strongly associated with many immune-mediated and infection-related diseases. Due to its highly polymorphic nature and complex linkage disequilibrium patterns, traditional genetic…
View article: Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation Open
We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Tra…
View article: Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation Open
View article: LocusZoom.js: interactive and embeddable visualization of genetic association study results
LocusZoom.js: interactive and embeddable visualization of genetic association study results Open
Summary LocusZoom.js is a JavaScript library for creating interactive web-based visualizations of genetic association study results. It can display one or more traits in the context of relevant biological data (such as gene models and othe…
View article: Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program Open
View article: LocusZoom.js: Interactive and embeddable visualization of genetic association study results
LocusZoom.js: Interactive and embeddable visualization of genetic association study results Open
LocusZoom.js is a JavaScript library for creating interactive web-based visualizations of genetic association study results. It can display one or more traits in the context of relevant biological data (such as gene models and other genomi…
View article: Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease Open
Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform…
View article: Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks Open
View article: Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation Open
We assembled an ancestrally diverse collection of genome-wide association studies of type 2 diabetes (T2D) in 180,834 cases and 1,159,055 controls (48.9% non-European descent). We identified 277 loci at genome-wide significance ( p <5×10 -…
View article: Exploring and visualizing large-scale genetic associations by using PheWeb
Exploring and visualizing large-scale genetic associations by using PheWeb Open
View article: Cancer PRSweb – an Online Repository with Polygenic Risk Scores (PRS) for Major Cancer Traits and Their Phenome-wide Exploration in Two Independent Biobanks
Cancer PRSweb – an Online Repository with Polygenic Risk Scores (PRS) for Major Cancer Traits and Their Phenome-wide Exploration in Two Independent Biobanks Open
To facilitate scientific collaboration on polygenic risk scores (PRS) research, we created an extensive PRS online repository for 49 common cancer traits integrating freely available genome-wide association studies (GWAS) summary statistic…
View article: De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population Open
De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. Utiliz…
View article: Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease
Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease Open
SUMMARY Cardiovascular diseases (CVD), and in particular cerebrovascular and ischemic heart diseases, are leading causes of death globally. 1 Lowering circulating lipids is an important treatment strategy to reduce risk. 2,3 However, some …
View article: Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program Open
Summary paragraph The Trans-Omics for Precision Medicine (TOPMed) program seeks to elucidate the genetic architecture and disease biology of heart, lung, blood, and sleep disorders, with the ultimate goal of improving diagnosis, treatment,…