Hákon Hákonarson
A5088244425- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Asthma and respiratory diseases
- Congenital heart defects research
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Autism Spectrum Disorder Research
- IL-33, ST2, and ILC Pathways
- Immune Cell Function and Interaction
- Birth, Development, and Health
- Inflammatory Bowel Disease
- Diabetes and associated disorders
- Neuroblastoma Research and Treatments
- Bioinformatics and Genomic Networks
- Attention Deficit Hyperactivity Disorder
- Pancreatic function and diabetes
- Congenital Heart Disease Studies
- Immunodeficiency and Autoimmune Disorders
- Helicobacter pylori-related gastroenterology studies
- Cancer Genomics and Diagnostics
- Metabolomics and Mass Spectrometry Studies
- Alzheimer's disease research and treatments
- Nutrition, Genetics, and Disease
University of Pennsylvania
2016-2025
Children's Hospital of Philadelphia
2016-2025
University of Iceland
2004-2025
California University of Pennsylvania
2013-2024
Philadelphia University
2004-2023
Genomics (United Kingdom)
2008-2023
Research Institute for Endocrine Sciences
2023
University of Utah
2023
Virginia Commonwealth University
2023
Huntsman (United States)
2023
High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint small subset functionally important variants. To fill these unmet needs, we developed the ANNOVAR tool annotate single nucleotide variants (SNVs) and insertions/deletions, such as examining their functional consequence on genes, inferring cytogenetic bands, reporting importance scores, finding in conserved regions, or identifying reported...
Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view human genetic variation. The resolution CNV detection in previous experimental designs has been limited tens or hundreds kilobases. Here we present PennCNV, hidden Markov model (HMM) based approach, for kilobase-resolution CNVs from Illumina high-density SNP genotyping data. This algorithm incorporates multiple sources information, including total signal intensity allelic ratio...
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified genetic sharing 25 disorders from genome-wide association studies 265,218 patients 784,643 control participants assessed relationship to 17 phenotypes 1,191,588 individuals. Psychiatric common variant risk, whereas neurological appear more distinct one another psychiatric disorders. also identified significant between a number...
Several lines of evidence point to genetic involvement in autism spectrum disorders (ASDs), neurodevelopmental and neuropsychiatric characterized by impaired verbal communication social interaction. The clinical complexities the condition make it difficult identify susceptibility factors, but two related studies now present robust for a involvement. first, genome-wide association study, identifies six single-nucleotide polymorphisms strongly associated with autism. These variants lie between...
Significance Sex differences are of high scientific and societal interest because their prominence in behavior humans nonhuman species. This work is highly significant it studies a very large population 949 youths (8–22 y, 428 males 521 females) using the diffusion-based structural connectome brain, identifying novel sex differences. The results establish that male brains optimized for intrahemispheric female interhemispheric communication. developmental trajectories females separate at...
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed excess genic deletions duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) increase subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD intellectual disability (odds ratio 12.62, 2.7 10(-15), ∼3% subjects). Pathogenic CNVs, often showing variable expressivity,...
A large number of different common variants has been associated with very modest increases risk for various diseases. simulation study shows that rare much greater impacts on disease may be responsible some these associations.
Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies identified 163 susceptibility loci for disease, mostly shared between colitis. We undertook largest genotype association study, to date, in widely used clinical subphenotypes with goal further understanding biological relations diseases.