ALL_CHR_freeze2.CSQ_annotated.vcf.bgz

syn73974831

Created By alberto brusati alberto.brusati

assay: whole genome sequencing
source: ALS Compute
creator: ALS Compute
disease: ALS FTD Control PLS LBD AD PMA Mitocondrial Myopathy VCP myopathy PD PBP Spastic paraparesis MSA VCP myopathy Hirayama disease Kennedy's disease Spinal muscular atrophy Spastic paraparesis
species: Homo sapiens
dataType: variant_calls
keywords: joint variant calls
platform: Illumina HiSeq X Illumina NovaSeq 6000
collection: ALS Compute
fileFormat: VCF
contributor: ALS Compute
description: joint variant calls
variantType: SNP INDELs
analysisTypes: joint_variant_call
libraryLayout: paired-end
site_of_onset: Bulbar Limb Lumbar Axial Respiratory Generalized Other Cognitive Head Drop
diseaseSubtype: ALS Spectrum MND pre-fALS Asymptomatic C9orf72 Asymptomatic NEK1 Asymptomatic C9 Asymptomatic SOD1 MUSK Myasthenia
alignmentMethod: BWA-MEM
libraryStrategy: WGS
processingLevel: processed
referenceGenome: GRChb38H
libraryPreparationMethod: Illumina SeqLab DNA PCR-free library PCR-Free Illumina TruSeq DNA Nano

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