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GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining
BACKGROUND: An important task in the interpretation of sequencing data is to highlight pathogenic genes (or detrimental variants) in the field of Mendelian diseases. It is still challenging despite the recent rapid development of genomics and bioinformatics. A typical interpretation workflow include...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923899/ https://www.ncbi.nlm.nih.gov/pubmed/31856831 http://dx.doi.org/10.1186/s12920-019-0637-x |