hg19.GoNLsnps: Dataframe with overlaps GoNL variants and 450K probes

Description Usage Format Source Examples

Description

Dataframe containing all SNPs and short INDELS from GoNLv5 that overlap with 450K probes. This release does not include X and Y chromosomes, so only information for autosomal probes is available. For each overlap there is an unique row. Consequently, some probes are duplicated (probes that overlap with multiple variants) and some variants are duplicated (some variants overlap with more than one probe).

Usage

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Format

A data frame with 207866 rows and 19 variables:

CHROM

chromosome, X and Y chromosomes are not available, since they are not included in this GoNL release

probe

probe ID

type

Infinium probedesign

strand

orientation of the probe

probeType

whether the probe measures a CpG-site (cg) or a non-CpG site (ch)

location_c

Location of the queried 'C' of the CpG dinucleotide. Note that this is the location of the C that is actually measured. For probes that interrogate the reverse strand (plus-strand probes) this is one base downstream of the C nucleotide on the forward strand

location_g

Location of the G nucleotide of the CpG dinucleotide. Note that this is the location of the queried G. For probes that interrogate the reverse strand (plus-strand probes) this is one base upstream of the G nucleotide on the forward strand

ID

SNP ID

snpBeg

Start coordinate of the variant. Identical to snpEnd for SNPs.

snpEnd

End coordinate of the variant. Identical to snpBeg for SNPs

AF

Allele frequency of alternative allele

REF

Reference allele

ALT

Alternative allele

FILTER

Filter information from GoNL.

MAF

Minor allele frequency

variantType

SNP or INDEL

distance_3end

Distance between SNP and 3'end of the probe. For type I probes the 3'end of the probe coincides with the queried C nucleotide. For type II probes the 3'end of the probe coincides with the G nucleotide directly after the C nucleotide.

distance_c

Distance from queried C nucleotide. A distance of -1 indicates that the SNPs overlaps the SBE-position for type I probes.

channel_switch

Indicates whether a variant in the SBE-location of type I probes causes a color-channel-switch or overlap with an INDEL. For plus-strand probes C/T, C/A and C/G SNPs are expected to cause a color-channel switch. For min-strand probes A/G, G/T and C/G SNPs are expected to cause a color-channel switch.

Source

http://zwdzwd.github.io/InfiniumAnnotation

https://molgenis26.target.rug.nl/downloads/gonl_public/variants/release5/

Examples

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    data(hg19.GoNLsnps)
    
    # Select variants that overlap with queried C nucleotide
    snps_c <- hg19.GoNLsnps[hg19.GoNLsnps$distance_c == 0, ] 
    
    # Select all INDELS
    indels <- hg19.GoNLsnps[hg19.GoNLsnps$variantType == "INDEL",] 
    
    # Select SNPs that cause a channel-switch
    channel_switch <- hg19.GoNLsnps[!is.na(hg19.GoNLsnps$channel_switch)
& hg19.GoNLsnps$channel_switch == "Yes",]

molepi/omicsPrint documentation built on May 23, 2019, 6:02 a.m.