MotherRareVariantsChr21


MotherRareVariantsChr21 is a data frame consisting of annotated genomic variants
coming from CompleteGenomics whole genome sequencing. Variants were filtered from GIAB Ashkenazim Trio mother file using following filters: dbSNP frequency < 0.01, coding, nonsynonymous or nonsense variant, sequencing depth > 10<p></p><p></p>

datasets

Genomic variants can be analyzed and visualized using many
tools. Unfortunately, number of tools for global interrogation
of variants is limited. Package RareVariantVis aims to present
genomic variants (especially rare ones) in a global, per
chromosome way. Visualization is performed in two ways -
standard that outputs png figures and interactive that uses
JavaScript d3 package. Interactive visualization allows to
analyze trio/family data, for example in search for causative
variants in rare Mendelian diseases.

Tomasz Stokowy

RareVariantVis

Visualization of rare variants in whole genome sequencing data

MotherRareVariantsChr21 function

Format

https://sites.stanford.edu/abms/content/giab-reference-materials-and-data

Source

MotherRareVariantsChr21 is a data frame consisting of annotated genomic variants
coming from CompleteGenomics whole genome sequencing. Variants were filtered from GIAB Ashkenazim Trio mother file using following filters: dbSNP frequency < 0.01, coding, nonsynonymous or nonsense variant, sequencing depth > 10

MotherRareVariantsChr21: Annotated rare variants on the chromosome 21, human genome 19

Description

Usage

Arguments

Value

Format

Source