gilissen_de_novos: get de novo data for Gilissen et al. intellectual disability...

In jeremymcrae/publishedDeNovos: Published De Novos Dataset from Developmental Disorder Sequencing Studies

Description

De novo mutation data sourced from supplementary table 8 from: Gilissen et al. (2014) Nature 511:344-347 doi: 10.1038/nature13394

Usage

gilissen_de_novos(deligt, deligt_sex)

Arguments

deligt	dataframe of de novos variants from the De Ligt N Engl J Med 367:1921-1929 study, so we can get the sample IDs and sex for the current dataset.
deligt_sex	dataframe of sample IDs and sex codes for all of the children in the de ligt study, not just those who had de novo variants.

Details

NOTE: the number of males and females will form part of the De Ligt counts, NOTE: since the Gilissen samples were in the De Ligt study, they just didn't receive a diagnosis in the original study

Value

data frame of de novos, including gene symbol, functional consequence (VEP format), chromosome, nucleotide position and SNV or INDEL type

jeremymcrae/publishedDeNovos documentation built on May 19, 2019, 5:08 a.m.