Identifying disease-causing mutations in genomes of single patients by computational approaches
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DOI: 10.1007/s00439-020-02179-7
Abstract: Over the last decade next generation sequencing (NGS) has been extensively used to identify new pathogenic mutations and genes causing rare genetic diseases. The efficient analyses of NGS data is not trivial and requires a… read more here.
Keywords: disease causing; causing mutations; genomes single; mutations genomes ... See more keywords