Open AccessHigh‐Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic‐Driven Medicine
Author(s) -
Ipe J,
Swart M,
Burgess KS,
Skaar TC
Publication year - 2017
Publication title -
clinical and translational science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.303
H-Index - 44
eISSN - 1752-8062
pISSN - 1752-8054
DOI - 10.1111/cts.12440
Subject(s) - dbsnp , personal genomics , biology , genome , genetics , runs of homozygosity , human genome , genome wide association study , 1000 genomes project , computational biology , exome , single nucleotide polymorphism , genomics , exome sequencing , snp genotyping , genetic variation , dna sequencing , genotyping , human genetics , precision medicine , mutation , gene , genotype
Genome-wide genotyping and DNA sequencing has led to the identification of large numbers of genetic variants that are associated with many clinical phenotypes. The functional impacts of most of the variants are unknown. In this article, we review high-throughput assays that have been developed to assess a variety of the functional impacts of the variants. A better understanding of their functions should facilitate the implementation of many more variants in genomic-driven medicine. A cornerstone of precision medicine is the incorporation of genetic information into healthcare decisions. This approach relies on understanding the genome complexity, the genetic differences that exist between individuals, and the functional consequences of the genetic variants. In the personal genome era, improvements in sequencing technologies are leading to continuous identification of new variants and further illustrating the complexity of the human genome and the genetic diversity between populations.