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

Cell Mol Life Sci. 2015 Apr;72(8):1463-71. doi: 10.1007/s00018-014-1807-9. Epub 2014 Dec 30.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Databases, Genetic
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / pathology
  • Genetics, Medical*
  • Genome, Human*
  • Germ-Line Mutation
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Polymorphism, Genetic
  • Sequence Analysis, DNA