Severity gradation of missense mutations is a big challenge for exome annotation. Predictors of deleteriousness that are most frequently used to filter variants found by next generation sequencing, produce qualitative predictions, but also numerical scores. It has never been tested if these scores correlate with disease severity.
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase / Cimmaruta, Chiiara; Citro, V.; Andreotti, G.; Liguori, L.; Cubellis, M. V.; Hay Mele, B.. - In: BMC BIOINFORMATICS. - ISSN 1471-2105. - 19:Suppl 15(2018), p. 433. [10.1186/s12859-018-2416-7]
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
CIMMARUTA, CHIIARA;Cubellis M. V.
;Hay Mele B.Ultimo
2018
Abstract
Severity gradation of missense mutations is a big challenge for exome annotation. Predictors of deleteriousness that are most frequently used to filter variants found by next generation sequencing, produce qualitative predictions, but also numerical scores. It has never been tested if these scores correlate with disease severity.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
