| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2013: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2012: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
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| Research Abstract |
We selected a multiplex family with autism spectrum disorder, for exome analysis. The family includes a proband, monozygotic twin, father, sister and a brother with Autism spectrum disorder. Exome sequencing were performed on all eight family members. Genomic DNA was captured on an Agilent sure select human all exon kit following the manufacturer's protocols. Captured libraries were sequenced on the Illumina Hiseq 2000. There were 116,607 single nucleotide variants (cSNVs) called in the proband with Autism spectrum disorder. After filtering for nonsynonymous substitutions, database SNPs (db137), and the cSNVs which were called in non affected subjects, and limiting the cSNVs which were shown on five ASD family members, seven cSNVs remained.
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