Title
LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer.
Abstract
BackgroundThe increasing availability of resequencing data has led to a better understanding of the most important genes in cancer development. Nevertheless, the mutational landscape of many tumor types is heterogeneous and encompasses a long tail of potential driver genes that are systematically excluded by currently available methods due to the low frequency of their mutations. We developed LowMACA (Low frequency Mutations Analysis via Consensus Alignment), a method that combines the mutations of various proteins sharing the same functional domains to identify conserved residues that harbor clustered mutations in multiple sequence alignments. LowMACA is designed to visualize and statistically assess potential driver genes through the identification of their mutational hotspots.
Year
DOI
Venue
2016
10.1186/s12859-016-0935-7
BMC Bioinformatics
Keywords
Field
DocType
Driver Mutation, Pfam Domain, Driver Gene, Mutual Exclusivity, Clustal Omega
Protein family,Gene,Biology,Bioinformatics,DNA Mutational Analysis,Genetics,DNA microarray,Cancer,Mutually exclusive events,Mutation
Journal
Volume
Issue
ISSN
17
1
1471-2105
Citations 
PageRank 
References 
0
0.34
12
Authors
8
Name
Order
Citations
PageRank
Giorgio E. M. Melloni100.68
Stefano de Pretis241.53
Laura Riva330.84
Mattia Pelizzola4413.25
Arnaud Ceol556836.57
Jole Costanza6215.98
Heiko Müller7122.52
Luca Zammataro821.81