GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining
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DOI: 10.1186/s12920-019-0637-x
Abstract: 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… read more here.
Keywords: text mining; interpretation; gtx digest; digest vcf ... See more keywords