Massively parallel sequencing: the new frontier of hematologic genomics

Blood. 2013 Nov 7;122(19):3268-75. doi: 10.1182/blood-2013-07-460287. Epub 2013 Sep 10.

Abstract

Genomic technologies are becoming a routine part of human genetic analysis. The exponential growth in DNA sequencing capability has brought an unprecedented understanding of human genetic variation and the identification of thousands of variants that impact human health. In this review, we describe the different types of DNA variation and provide an overview of existing DNA sequencing technologies and their applications. As genomic technologies and knowledge continue to advance, they will become integral in clinical practice. To accomplish the goal of personalized genomic medicine for patients, close collaborations between researchers and clinicians will be essential to develop and curate deep databases of genetic variation and their associated phenotypes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA / chemistry*
  • DNA / genetics
  • DNA Copy Number Variations
  • Genetic Heterogeneity
  • Genome, Human*
  • Genome-Wide Association Study
  • Genomics / methods*
  • Genomics / trends
  • Genotype
  • Hematology / methods*
  • Hematology / trends
  • High-Throughput Nucleotide Sequencing / methods*
  • High-Throughput Nucleotide Sequencing / standards
  • Humans
  • Phenotype
  • Polymorphism, Genetic
  • Precision Medicine
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, DNA / standards

Substances

  • DNA