User profiles for author:Joshua author:Korn

Joshua M Korn

Novartis Institutes for Biomedical Research
Verified email at
Cited by 20036

[HTML][HTML] Association between microdeletion and microduplication at 16p11. 2 and autism

LA Weiss, Y Shen, JM Korn, DE Arking… - … England Journal of …, 2008 - Mass Medical Soc
Background Autism spectrum disorder is a heritable developmental disorder in which
chromosomal abnormalities are thought to play a role. Methods As a first component of a
genomewide association study of families from the Autism Genetic Resource Exchange

[HTML][HTML] Mapping and sequencing of structural variation from eight human genomes

…, K McKernan, L Chen, M Malig, JD Smith, JM Korn… - Nature, 2008 -
Abstract Genetic variation among individual humans occurs on many different scales,
ranging from gross alterations in the human karyotype to single nucleotide changes. Here
we explore variation on an intermediate scale—particularly insertions, deletions and

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

…, S Duga, M Spreafico, MJ Daly, J Nemesh, JM Korn… - Nature …, 2009 -
Abstract We conducted a genome-wide association study testing single nucleotide
polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset
myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an

Integrated detection and population-genetic analysis of SNPs and copy number variation

SA McCarroll, FG Kuruvilla, JM Korn, S Cawley… - Nature …, 2008 -
Abstract Dissecting the genetic basis of disease risk requires measuring all forms of genetic
variation, including SNPs and copy number variants (CNVs), and is enabled by accurate
maps of their locations, frequencies and population-genetic properties. We designed a

The plasticity of dendritic cell responses to pathogens and their components

…, D Liu, P Majewski, LC Schulte, JM Korn… - …, 2001 -
Dendritic cells are involved in the initiation of both innate and adaptive immunity. To
systematically explore how dendritic cells modulate the immune system in response to
different pathogens, we used oligonucleotide microarrays to measure gene expression

[HTML][HTML] Mapping copy number variation by population scale genome sequencing

…, Z Iqbal, S Kang, JM Kidd, MK Konkel, J Korn… - Nature, 2011 -
Summary Genomic structural variants (SVs) are abundant in humans, differing from other
variation classes in extent, origin, and functional impact. Despite progress in SV
characterization, the nucleotide resolution architecture of most SVs remains unknown. We

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

JM Korn, FG Kuruvilla, SA McCarroll, A Wysoker… - Nature …, 2008 -
Abstract Accurate and complete measurement of single nucleotide (SNP) and copy number
(CNV) variants, both common and rare, will be required to understand the role of genetic
variation in disease. We present Birdsuite, a four-stage analytical framework instantiated in

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

…, T Green, J Halfvarson, T Haritunians, JM Korn… - Nature …, 2011 -
More than 1,000 susceptibility loci have been identified through genome-wide association
studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of
causal variants underlying these findings have not yet been defined. Here we used pooled

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

…, SJ Israel, SM Mesquita, E Ergul, JH Conta, JM Korn… - Nature …, 2009 -
Abstract Tetralogy of Fallot (TOF), the most common severe congenital heart malformation,
occurs sporadically, without other anomaly, and from unknown cause in 70% of cases.
Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we

Demographic history and rare allele sharing among human populations

S Gravel, BM Henn, RN Gutenkunst… - Proceedings of the …, 2011 - National Acad Sciences
Abstract High-throughput sequencing technology enables population-level surveys of
human genomic variation. Here, we examine the joint allele frequency distributions across
continental human populations and present an approach for combining complementary