Computational protocol: A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

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Protocol publication

[…] The DNA sample of patient II-2 was enriched for exonic sequences with the SureSelect Human All Exon v.2 Kit, which targets 44 Mb (Agilent, Santa Clara, CA, USA). Sequencing was carried out on a GAIIx (Illumina, San Diego, CA, USA) with 100-bp paired-end runs. Image analysis and base calling were performed with the Genome Analyzer Pipeline version 1.5 using default parameters. The sequence reads were aligned to human genome assembly hg18 (GRCh36) with DNAnexus software (Palo Alto, CA) using default parameters. [...] Online Mendelian Inheritance in Man (OMIM) SeattleSeq Annotation website - PolyPhen-2 prediction of functional effects of human nsSNPs SIFT - Sorting Tolerant From Intolerant Mutation taster - NHLBI Exome Sequencing Project Exome Variant Server - […]

Pipeline specifications

Software tools DNAnexus, SeattleSeq Annotation, PolyPhen, MutationTaster
Databases Exome Variant Server OMIM
Applications Miscellaneous, WES analysis
Organisms Homo sapiens, Mus musculus
Diseases Parkinson Disease, Parkinson Disease, Secondary