Concepedia

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

Jorge Oliveira, Luís Negrão, Isabel Fineza, Ricardo Taipa, Manuel Melo Pires, Ana María Fortuna, Ana Gonçalves, Hugo J.C. Froufe, Conceição Egas, Rosário Santos,

Journal of Human Genetics · 2015 · 45 citations · 26 references

Concepts

Life SciencesGeneticsMolecular GeneticsGenomicsMedical GeneticsNeurogeneticsGenetic DisordersMuscle DisordersMuscular DystrophyRare Disease GenomicsRna SplicingDisease-associated SplicingDisease-associated Splicing DefectsExome SequencingMolecular Genetic DiagnosisMuscular Dystrophy GeneticsWhole Exome Sequencing StudiesWhole-exome Sequencing Analysis

References

26

UCSF Chimera—A visualization system for exploratory research and analysis

Eric F. Pettersen, Thomas D. Goddard, Conrad C. Huang et al. · Journal of Computational Chemistry · 2004 · 47.8K citations

Computing, Bioinformatics, Visualization +17

The variant call format and VCFtools

Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Helga Thorvaldsdóttir, James Robinson, Jill P. Mesirov · Briefings in Bioinformatics · 2012 · 9.8K citations · Full text

Computing, Bioinformatics, Visualization +15

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16