User profiles for H. Hakonarson

Hakon Hakonarson

Director, Center for Applied Genomics, CHOP, UPENN
Verified email at email.chop.edu
Cited by 150588

Analysis of shared heritability in common disorders of the brain

…, E Rogaeva, P St George-Hyslop, H Hakonarson… - Science, 2018 - science.org
INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …

Analysing biological pathways in genome-wide association studies

K Wang, M Li, H Hakonarson - Nature Reviews Genetics, 2010 - nature.com
… For example, previous GWA studies demonstrated that complement factor H is a strong
risk factor for age-related macular degeneration (AMD) 30,31,32 . However, in a pathway-based …

[HTML][HTML] The electronic medical records and genomics (eMERGE) network: past, present, and future

…, JC Denny, CJ Gallego, JL Haines, H Hakonarson… - Genetics in …, 2013 - nature.com
… However, sites that are farther along the translation spectrum plan to include measurement
of some health outcomes, including documented adverse drug reaction within 24 h of …

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

…, MS Silverberg, V Annese, H Hakonarson… - Nature, 2012 - nature.com
Crohn’s disease and ulcerative colitis, the two common forms of inflammatory bowel disease
(IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other …

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

…, JR Gilbert, M Mayhaus, L Lannfelt, H Hakonarson… - Nature …, 2013 - nature.com
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous
studies; however, a large portion of the genetic risk for this disease remains unexplained. …

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

…, S Schreiber, JH Cho, V Annese, H Hakonarson… - Nature …, 2010 - nature.com
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS)
comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

…, RE Gur, RC Gur, B Gutiérrez, E Hahn, H Hakonarson… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80% 1 , much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

…, AM Goate, D Blacker, DW Tsuang, H Hakonarson… - Nature …, 2011 - nature.com
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association
study of late-onset Alzheimer disease using a three-stage design consisting of a discovery …

Functional impact of global rare copy number variation in autism spectrum disorders

…, A Green, J Green, SJ Guter, H Hakonarson… - Nature, 2010 - nature.com
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments
in reciprocal social interaction and communication, and the presence of restricted and …

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

K Wang, M Li, H Hakonarson - Nucleic acids research, 2010 - academic.oup.com
High-throughput sequencing platforms are generating massive amounts of genetic variation
data for diverse genomes, but it remains a challenge to pinpoint a small subset of …