Recent advances in functional genome analysis

F1000Res. 2018 Dec 21:7:F1000 Faculty Rev-1968. doi: 10.12688/f1000research.15274.1. eCollection 2018.


At the beginning of this century, the Human Genome Project produced the first drafts of the human genome sequence. Following this, large-scale functional genomics studies were initiated to understand the molecular basis underlying the translation of the instructions encoded in the genome into the biological traits of organisms. Instrumental in the ensuing revolution in functional genomics were the rapid advances in massively parallel sequencing technologies as well as the development of a wide diversity of protocols that make use of these technologies to understand cellular behavior at the molecular level. Here, we review recent advances in functional genomic methods, discuss some of their current capabilities and limitations, and briefly sketch future directions within the field.

Keywords: functional genomics; massively paralel sequencing.

Publication types

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

MeSH terms

  • Genome, Human / genetics
  • Genomics / methods
  • Genomics / trends*
  • Human Genome Project
  • Humans
  • Sequence Analysis, DNA / methods
  • Sequence Analysis, DNA / trends

Grants and funding

Roderic Guigo acknowledges the support of the “Salvador de Madariaga” program from the Spanish Ministry of Education, Culture and Sports during his sabbatical at the Riken; the support of the Spanish Ministry of Economy and Competitiveness, “Centro de Excelencia Severo Ochoa”, and the EMBL partnership; and the support of the CERCA Programme/Generalitat de Catalunya. Michiel de Hoon is supported by a research grant from the Japanese Ministry of Education, Culture, Sports, Science and Technology (MEXT) to the RIKEN Center for Integrative Medical Sciences.