KGGSeq

[…] analysable alterations (some variants mapped to more than one transcript) and three variants were predicted to be disease-causing. only one variant was predicted to be mendelian disease-causing by kggseq (table 2)., among the shortlisted variants, only the hspb1 non-synonymous snp variant has a homozygous genotype and is compatible with the autosomal recessive inheritance demonstrated […]

[…] are implemented in c++), this algorithm substantially improved the speed of loading and parsing text data. we believe this algorithm will also be useful for other bioinformatics analysis tools., kggseq was designed to integrate multiple methods and resources for wgs downstream analysis. although it has integrated abundant functions for a comprehensive downstream analysis into five main […]

[…] and clinvar database41 (http://www.ncbi.nlm.nih.gov/clinvar/) as well as capitalbio gedd database (capitalbio, beijing, china). the potentially pathogenic variants were evaluated with kggseq (version v0.5)21 using a logit model to combine prediction scores from multiple methods and to compute an unbiased estimate of the probability of a rare nonsynonymous snv being pathogenic. […]