title: Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.
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.
authors.affiliation: Department of Medical Genetics, University of Lausanne, Rue Du Bugnon 27, 1005, Lausanne, Switzerland.
authors.forename: Beryl
authors.initials: B
authors.lastname: Royer-Bertrand
authors.forename: Carlo
authors.initials: C
authors.lastname: Rivolta
mesh_terms: D030541:Databases, Genetic; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000473:pathology; D005826:Genetics, Medical; D015894:Genome, Human; D018095:Germ-Line Mutation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA