Computational protocol: Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis

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Protocol publication

[…] For the proband's DNA sample, whole genome library was prepared using KAPA Library Preparation Kits for Illumina sequencing platforms, and all the coding sequences together with exon flanking sequences of 439 known pathogenic genes involving inborn errors of metabolism (IEM) were captured using an Agilent SureSelect Target Enrichment System. Then paired-end sequencing for the proband's target sequence was performed using an Illumina HiSeq2500 next-generation sequencer.Clean reads were mapped to the reference human genome hg19/GRCh37 using software Burrows-Wheeler Aligner. Genome Analysis ToolKit was used to identify single-nucleotide variations and insertions/deletions. All of the identified variants were annotated using software ANNOVAR, and significant variants were obtained using the single-nucleotide polymorphism database (NCBI dbSNP),[] Exome Aggregation Consortium (ExAC), 1000 Genomes Project, and Exome Sequencing Project (ESP6500). […]

Pipeline specifications

Software tools BWA, GATK, ANNOVAR
Databases dbSNP
Application WES analysis
Organisms Homo sapiens
Diseases Hepatolenticular Degeneration, Movement Disorders, Osteoarthritis