Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Keyphrases

• Affected Family Members 100%
• ARID1B 33%
• Autism 100%
• Autism Risk 33%
• Coding mutation 33%
• Copy number Variation 66%
• DISC1 33%
• Disruptive mutation 33%
• DNase I Hypersensitive Sites 33%
• Dosage Sensitivity 33%
• Down Syndrome Cell Adhesion Molecule (DSCAM) 33%
• Exome Sequencing 33%
• Exon 33%
• Experimental Validation 33%
• Fetal CNS 33%
• Genome Sequencing 100%
• Incremental Risk 33%
• MBD5 33%
• Microarray 33%
• Multi-copy 33%
• Neurodevelopmental Genes 33%
• Non-coding 100%
• NR3C2 33%
• Nucleotide Sequence Analysis 33%
• PIK3CA 33%
• PRKCA 33%
• Proband 33%
• Protein-coding Genes 33%
• RBFOX1 33%
• Regulatory DNA 100%
• Regulatory Elements 33%
• Regulatory Region 33%
• SAE1 33%
• SCN2A 33%
• Simplex 66%
• Single nucleotide Variant 33%
• Whole Exome Sequencing 33%
• Whole Genome Sequencing 33%
• Wnt7a 33%

Biochemistry, Genetics and Molecular Biology

• DISC1 50%
• DNase I Hypersensitive Site 50%
• Down Syndrome Cell Adhesion Molecule 50%
• Exome Sequencing 100%
• Exon 50%
• Genome Sequencing 100%
• Proband 50%
• RBFOX1 50%
• Regulatory Element 50%
• Regulatory Region 50%
• SAE1 50%
• Single-Nucleotide Polymorphism 100%
• Whole Genome Sequencing 50%
• WNT7A 50%