Exploring Ultra-Rare SNVs in SubjectZ's Genome with RareVariantVis
Dive into the analysis of ultra-rare single nucleotide variants (SNVs) in the genome of SubjectZ using RareVariantVis. Explore the visualization of causative variants in rare monogenic disorders through whole genome sequencing data and identify potential recessive disease hotspots and loss of heterozygosity regions. View detailed chromosome mappings and coding variants present in the Zimmer sample but not in Synder/NA12878.
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Presentation Transcript
Evaluateing Ultra-Rare SNVs in the Genome of SubjectZ Using RareVariantVis 1
Short legend for figures x axis - position on chromosome y axis - zygosity (# of alternative variant reads / # of total reads in particular genomic position) orange lines - position of centromere (UCSC hg19) red horizontal line - theoretical line separating heterozygous and homozygous red continuous line - moving average of zygosity, window 2000 variants; when it reaches 1, region could be a loss of heterozygosity (LOH), potential recessive disease hotspot blue dots - SNVs in their positions green dots - rare, nonsynonymous coding variants, according to FunSeq2 (prematureStop + nonsynonymous) orange dots - rare, nonsynonymous coding variants present only in Zimmer sample (not in Synder/NA12878) Reference : Stokowy, T, et al. (2016) RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data. Bioinformatics btw359 2
