Human genome sequencing in health and disease.

TitleHuman genome sequencing in health and disease.
Publication TypeJournal Article
Year of Publication2012
AuthorsGonzaga-Jauregui, C, Lupski, JR, Gibbs, RA
JournalAnnu Rev Med
Date Published2012
KeywordsGenetic Diseases, Inborn, Genetic Privacy, Genome, Human, HapMap Project, Human Genome Project, Humans

Following the "finished," euchromatic, haploid human reference genome sequence, the rapid development of novel, faster, and cheaper sequencing technologies is making possible the era of personalized human genomics. Personal diploid human genome sequences have been generated, and each has contributed to our better understanding of variation in the human genome. We have consequently begun to appreciate the vastness of individual genetic variation from single nucleotide to structural variants. Translation of genome-scale variation into medically useful information is, however, in its infancy. This review summarizes the initial steps undertaken in clinical implementation of personal genome information, and describes the application of whole-genome and exome sequencing to identify the cause of genetic diseases and to suggest adjuvant therapies. Better analysis tools and a deeper understanding of the biology of our genome are necessary in order to decipher, interpret, and optimize clinical utility of what the variation in the human genome can teach us. Personal genome sequencing may eventually become an instrument of common medical practice, providing information that assists in the formulation of a differential diagnosis. We outline herein some of the remaining challenges.

Alternate JournalAnnu. Rev. Med.
PubMed ID22248320
PubMed Central IDPMC3656720
Grant ListU54 HG006542 / HG / NHGRI NIH HHS / United States
HD024064 / HD / NICHD NIH HHS / United States
M01 RR000188 / RR / NCRR NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
P30 HD024064 / HD / NICHD NIH HHS / United States
P30 AI036211 / AI / NIAID NIH HHS / United States
R01 NS058529 / NS / NINDS NIH HHS / United States
5 U54 HG003273 / HG / NHGRI NIH HHS / United States