- Unique identifier:
- Command line interface
- Input data:
- Some sequencing data from Complete Genomics, Illumina, SOLiD and VCF.
- Output format:
- SFT, TSV
- GNU General Public License version 3.0
- Software type:
- Restrictions to use:
- Output data:
- A standard file format used is a simple tab delimited file.
- Operating system:
- Computer skills:
- Documentation: http://genomecomb.sourceforge.net/docs/intro.html
- Albena Jordanova <>
No open topic.
(Kancheva et al., 2016)
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
PMID: 26492578 DOI: 10.1038/gim.2015.139
(Reumers et al., 2011)
Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.
PMID: 22178994 DOI: 10.1038/nbt.2053
Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium; Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia, Bulgaria; Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium; Department of Neurology, Medical University-Sofia, Sofia, Bulgaria; Department of Pediatrics, Dicle University School of Medicine, Diyarbakir, Turkey; Department of Neurological, Neuropsychological, Morphological and Motor Sciences, University of Verona, Verona, Italy; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria; Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey
Supported in part by the University of Antwerp (TOP BOF 29069); the Fund for Scientific Research–Flanders, Tom Wahlig Foundation, Jena, Germany; and the Bogazici University Research Fund (11B01P7); by fellowships from the Fund for Scientific Research–Flanders and by a travel grant from the Boehringer Ingelheim Fonds, Germany.
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