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

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Abstract

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 sequencing of complete genomes, by a method referred to as whole genome sequencing (WGS). In this work, we review the use of WGS in medical genetics, with specific emphasis on the benefits and the disadvantages of this technique for detecting genomic alterations leading to Mendelian human diseases and to cancer.

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Acknowledgments

We would like to acknowledge the Swiss National Science Foundation (Grant 310030_138346) and Fond’action contre le cancer Lausanne for their financial support. We are also indebted to Dr. Aaron F. McDaid for his critical revision of this text.

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  1. Department of Medical Genetics, University of Lausanne, Rue Du Bugnon 27, 1005, Lausanne, Switzerland

    Beryl Royer-Bertrand & Carlo Rivolta

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Correspondence to Carlo Rivolta.

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Royer-Bertrand, B., Rivolta, C. Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. Cell. Mol. Life Sci. 72, 1463–1471 (2015). https://doi.org/10.1007/s00018-014-1807-9

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