Sarah A. Gagliano Taliun

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.

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

The paper shows that astrocytic RNA editing via ADAR1 modulates immune responses to alpha-synuclein, contributing to neuroinflammation in Parkinson's disease.

The paper identifies local genetic correlations between neurodegenerative and neuropsychiatric diseases using LAVA, revealing shared genomic regions and potential therapeutic targets.

This study investigates the role of Neanderthal introgression and natural selection in the heritability of neurodegenerative diseases and finds no significant contribution from either.

This study identifies regional genetic correlations between neurodegenerative diseases and immune-related traits using sc-eQTLs and GWAS data, revealing immune-mediated risk loci.

The paper shows that a significant portion of gene expression regulation in the human brain occurs post-transcriptionally in the cytoplasm, particularly for synaptic genes.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

The paper examines how APOE ε2 and ε4 variants affect hippocampus-default network subregion co-variation, revealing sex-specific associations with lifestyle and health traits.

This study uses transcriptomic profiling to identify common and distinct molecular features across Lewy Body diseases, highlighting RNA splicing dysregulation and potential therapeutic targets.

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.

SAIGE-GENE is a scalable generalized linear mixed model for region-based association tests in large cohorts, efficiently handling over 400,000 samples with controlled type I error rates.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This paper introduces a contamination estimation method that is agnostic to genetic ancestry, improving accuracy in DNA sample analysis.

Meta-MultiSKAT improves power for region-based genetic association tests by meta-analyzing multiple correlated phenotypes using summary statistics and variance component tests.

This study constructs and evaluates polygenic risk scores for skin cancer subtypes using the Michigan Genomics Initiative and UK Biobank data, and develops a visual catalog to compare PRS methods.

ERASE assesses enrichment of GWAS risk loci in ASE data and identifies splicing-related ASEs associated with Parkinson's 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.

This paper introduces SAIGE, a method that improves the accuracy of genetic association tests in unbalanced case-control studies by using saddlepoint approximation, and demonstrates its effectiveness on UK Biobank data.

The paper uses GWAS summary statistics to identify enrichment of heritability in immune system annotations for Alzheimer’s and Parkinson’s diseases.