Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects

Keyphrases

• Complete Sequence 100%
• 22q11.2 Deletion Syndrome 100%
• Conotruncal Defects 100%
• Odds Ratio 16%
• Meta-analysis 16%
• Congenital Heart Disease 16%
• Common Variants 16%
• Genome-wide Association Study 16%
• Association Test 16%
• Penetrance 16%
• CrkL 16%
• Hemizygous 16%
• Non-homologous Recombination 16%
• Conotruncal 16%
• Single Linkage 16%
• Cardiac Anatomy 16%
• Kernal 16%
• Set-based Test 16%
• LCR22 16%
• Expression Quantitative Trait Loci (eQTL) 16%
• Open Chromatin Regions 16%
• D-region 16%
• Adaptor 16%
• Linkage Disequilibrium 16%
• Low-copy Repeats 16%
• Proto-oncogene 16%
• 22q11.2 Region 16%

Biochemistry, Genetics and Molecular Biology

• Enhancer Region 100%
• Allele 100%
• Low Copy Repeats 50%
• Expression Quantitative Trait Loci 50%
• Genome-Wide Association Study 50%
• Penetrance 50%
• Proto Oncogene 50%
• Gene Linkage Disequilibrium 50%
• Non-Allelic Homologous Recombination 50%
• Chromatin 50%
• Common Variant 50%