text file representing the most specific associations gene-HPO term (def: "gene2pheno.txt").
The file must be written as sequence of rows. Each row represents a gene and all its
associations with abnormal phenotype tab separated, e.g.: gene_1 <tab> phen1 <tab> ... phen_N.
See Details section to know more information about how to obtain this file.
genename
boolean value:
TRUE (def.): the names of genes are gene symbol (i.e. characters);
FALSE: the names of gene are entrez gene ID (i.e. integer numbers);
Value
the annotation matrix of the most specific annotations (0/1): rows are genes and columns are HPO terms.
Let's denote \(M\) the labels matrix. If \(M[i,j]=1\), means that the gene \(i\) is annotated with the class \(j\), otherwise \(M[i,j]=0\).
Details
The input plain text file representing the most specific associations gene-HPO term can be obtained by forking the GitHub repositoty
HPOparser, a collection of Perl subroutines to parse the HPO OBO file
and the HPO annotations file.