Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-6824-4_24
Abstract: Diagnosis of mitochondrial disorders is still hampered by their phenotypic and genotypic heterogeneity. In many cases, exome sequencing, the state-of-the-art method for genetically diagnosing mitochondrial disease patients, does not allow direct identification of the disease-associated… read more here.
Keywords: disease causing; cell lines; disease; functional complementation ... See more keywords
Significance and Functional Similarity for Identification of Disease Genes
Sign Up to like & getrecommendations! Published in 2017 at "IEEE/ACM transactions on computational biology and bioinformatics"
DOI: 10.1109/tcbb.2016.2598163
Abstract: One of the most significant research issues in functional genomics is insilico identification of disease related genes. In this regard, the paper presents a new gene selection algorithm, termed as SiFS, for identification of disease… read more here.
Keywords: similarity; functional similarity; identification disease; disease genes ... See more keywords