Hakon H. Hakonarson

The paper establishes AVI_QUANTILE thresholds for classifying SNVs using ClinVar data and evaluates their performance in variant prioritization and fine-mapping.

SCOTCH improves isoform-level gene expression characterization using long-read single-cell RNA sequencing by refining sub-exon boundaries and reducing false positives.

This study identifies a novel genetic locus near SOX5 and reveals causal links between psychiatric and metabolic factors in anorexia nervosa using integrative GWAS and cross-trait analysis.

This study uses exome sequencing to identify genetic associations with interstitial cystitis/bladder pain syndrome, finding new links and extending known associations.

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

This paper identifies and validates 5q31.1 as a neuroblastoma susceptibility locus in Chinese children through GWAS and functional studies.

The paper identifies DNA methylation differences associated with normalized fetal/placental weight ratios and links them to neurodevelopmental outcomes in neonates with congenital heart disease.

This paper introduces mixWAS, a one-shot, lossless algorithm for integrating distributed EHR datasets to identify cross-cohort genetic associations across multiple outcomes.

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

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.

This companion paper identifies a β-casein-specific TCR clonotype and its HLA restriction in a patient with EoE milk allergy, supporting findings from the parent study.

This study identifies SYCP3 as a driver of prostate cancer metastasis through CRISPR screening and shows its role in invasion, adhesion, and radiotherapy resistance.

The paper introduces a framework for time-varying GWAS to identify age-varying genetic effects on BMI across childhood, finding 28 genome-wide significant variants, including a novel one in DAOA.

This study identifies a genome-wide association for neonatal jaundice, revealing distinct genetic pathways compared to adult bilirubin metabolism.

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

This study conducts a multi-ancestry GWAS meta-analysis of 56,146 AD cases and 602,280 controls, identifying 101 genomic loci, 15 novel to AD or eczema, and linking them to AD pathophysiology through functional analyses.

This paper identifies increased ZFPM2 dosage as a mechanism for 46,XX testicular development independent of SRY in a mosaic individual.

This study investigates the clinical consequences of a genetic predisposition to lower white blood cell counts using a polygenic score and finds associations with bone marrow biopsy outcomes and treatment responses.

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

The paper identifies epistatic SNP-SNP interactions in long-range LD across five diseases using UK Biobank and eMERGE data, finding associations involving conserved genes and essential genes.

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

This study identifies blood-based biomarkers associated with Alzheimer's disease genetic risk variants in a large cohort of healthy adults, showing effects from early adulthood and sex-specific patterns.

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.