Computational protocol: Isolated inclusion body myopathy caused by a multisystem proteinopathy–linked hnRNPA1 mutation

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Protocol publication

[…] Exome sequencing was performed on 6 family members in family 1 (), 4 of whom were affected. Exon capture was performed using the SureSelect Human All Exon kit v5 (Agilent Technologies, Santa Clara, CA). Exon libraries were sequenced using the Illumina HiSeq 2500 platform according to the manufacturer's instructions (Illumina, San Diego, CA). Paired 101-base pair reads were aligned to the reference human genome (UCSChg19) using the Burrows-Wheeler Alignment Tool. Likely PCR duplicates were removed using the Picard program (http://broadinstitute.github.io/picard/). Single nucleotide variants (SNVs) and indels were identified using Genome Analysis Toolkit v1.6 software. SNVs and indels were annotated against the RefSeq database and dbSNP135 with the ANNOVAR program. […]

Pipeline specifications

Software tools Picard, GATK, ANNOVAR
Databases dbSNP
Application WES analysis
Organisms Homo sapiens
Diseases Bone Diseases, Muscular Diseases