Computational protocol: A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease

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Protocol publication

[…] Approximately, 5000 bp of the contig sequence from LR-PCR was analyzed to identify two breakpoints of the gross deletion with BLAT using the UCSC Genome Browser. The known repetitive elements were evaluated by CENSOR at the 300 nucleotide sequence flanking each breakpoint using the February 2009 human reference sequence (GRCh37/hg19) (). […]

Pipeline specifications

Software tools BLAT, CENSOR
Databases UCSC Genome Browser
Application Genome data visualization
Organisms Homo sapiens