Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer


The past decade has seen the emergence of next-generation sequencing (NGS) technologies, which have revolutionized the field of human molecular genetics. With NGS, significant portions of the human genome can now be assessed by direct sequence analysis, highlighting normal and pathological variants of our DNA. Recent advances have also allowed the… (More)
DOI: 10.1007/s00018-014-1807-9


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