Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

PubWeight™: 8.23‹?› | Rank: Top 0.1%

🔗 View Article (PMC 3208396)

Published in Bioinformatics on October 07, 2011

Authors

Pierre Lindenbaum1, Solena Le Scouarnec, Vincent Portero, Richard Redon

Author Affiliations

1: Institut du thorax, Inserm UMR 915, Centre Hospitalier Universitaire de Nantes, 44000 Nantes, France.

Articles cited by this

The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39

A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53

Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics (2010) 52.01

Integrative genomics viewer. Nat Biotechnol (2011) 42.83

Predicting deleterious amino acid substitutions. Genome Res (2001) 28.95

The variant call format and VCFtools. Bioinformatics (2011) 25.88

Taverna: a tool for building and running workflows of services. Nucleic Acids Res (2006) 14.90

The UCSC Known Genes. Bioinformatics (2006) 14.67

STRING 7--recent developments in the integration and prediction of protein interactions. Nucleic Acids Res (2006) 12.16

BigWig and BigBed: enabling browsing of large distributed datasets. Bioinformatics (2010) 9.11

Extending KNIME for next-generation sequencing data analysis. Bioinformatics (2011) 8.45

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat (2011) 6.97

Tabix: fast retrieval of sequence features from generic TAB-delimited files. Bioinformatics (2011) 5.86

Mobyle: a new full web bioinformatics framework. Bioinformatics (2009) 4.96

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61

Integrating diverse databases into an unified analysis framework: a Galaxy approach. Database (Oxford) (2011) 1.47

High-throughput bioinformatics with the Cyrille2 pipeline system. BMC Bioinformatics (2008) 1.31

Articles by these authors

Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63

Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27

Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66

Diet and the evolution of human amylase gene copy number variation. Nat Genet (2007) 8.64

Sudden cardiac arrest associated with early repolarization. N Engl J Med (2008) 8.26

Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93

Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res (2006) 5.50

A robust statistical method for case-control association testing with copy number variation. Nat Genet (2008) 4.78

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol (2007) 3.54

Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest (2008) 2.54

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation (2007) 2.38

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet (2013) 1.86

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. J Am Coll Cardiol (2011) 1.82

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet (2009) 1.64

Identification of large families in early repolarization syndrome. J Am Coll Cardiol (2013) 1.50

Confirmed rare copy number variants implicate novel genes in schizophrenia. Biochem Soc Trans (2010) 1.42

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. Circ Cardiovasc Genet (2015) 1.38

Genomic and expression profiling of chromosome 17 in breast cancer reveals complex patterns of alterations and novel candidate genes. Cancer Res (2004) 1.30

The role of DNA copy number variation in schizophrenia. Biol Psychiatry (2009) 1.26

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model. PLoS One (2010) 1.26

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. Hum Mol Genet (2010) 1.21

Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease. J Mol Cell Cardiol (2008) 0.99

Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes. Nat Protoc (2007) 0.95

Familial aggregation of calcific aortic valve stenosis in the western part of France. Circulation (2006) 0.93

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation. Am J Med Genet A (2008) 0.88

Large scale variation in DNA copy number in chicken breeds. BMC Genomics (2013) 0.86

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet (2010) 0.84

Pitfalls in the use of DGV for CNV interpretation. Am J Med Genet A (2011) 0.82

aCGH.Spline--an R package for aCGH dye bias normalization. Bioinformatics (2011) 0.80

Overlapping 3q28 amplifications in the COMA cell line and undifferentiated primary sarcoma. Cancer Genet Cytogenet (2006) 0.79

Copy number variation goes clinical. Genome Biol (2009) 0.79

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations. Basic Res Cardiol (2014) 0.78

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet (2017) 0.75

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death. J Am Coll Cardiol (2017) 0.75