title: Massively parallel sequencing: the new frontier of hematologic genomics.
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.
authors.affiliation: Department of Medicine, University of Washington, Seattle, WA;
authors.forename: Jill M
authors.initials: JM
authors.lastname: Johnsen
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Nickerson
authors.forename: Alex P
authors.initials: AP
authors.lastname: Reiner
mesh_terms: D004247:DNA / Q000737:chemistry* / Q000235:genetics; D056915:DNA Copy Number Variations; D018740:Genetic Heterogeneity; D015894:Genome, Human; D055106:Genome-Wide Association Study; D023281:Genomics / Q000379:methods* / Q000639:trends; D005838:Genotype; D006405:Hematology / Q000379:methods* / Q000639:trends; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods* / Q000592:standards; D006801:Humans; D010641:Phenotype; D011110:Polymorphism, Genetic; D057285:Precision Medicine; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000592:standards
chemical_list: D004247:DNA
references.citation: Nature. 2010 Apr 1;464(7289):768-72
references.pmid: 20220758
references.citation: Nature. 2012 Jul 11;487(7406):190-5
references.pmid: 22785314
references.citation: Nat Rev Genet. 2010 Jan;11(1):31-46
references.pmid: 19997069
references.citation: Nat Protoc. 2012 Mar 01;7(3):562-78
references.pmid: 22383036
references.citation: Nat Methods. 2009 May;6(5):315-6
references.pmid: 19349981
references.citation: Genome Res. 2013 Mar;23(3):555-67
references.pmid: 23325432
references.citation: Nature. 2005 Sep 15;437(7057):376-80
references.pmid: 16056220
references.citation: Annu Rev Genomics Hum Genet. 2009;10:263-84
references.pmid: 19630561
references.citation: Nat Methods. 2010 Sep;7(9):741-6
references.pmid: 20711194
references.citation: Science. 2009 Oct 9;326(5950):289-93
references.pmid: 19815776
references.citation: Genome Res. 2009 Sep;19(9):1527-41
references.pmid: 19546169
references.citation: Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101
references.pmid: 19861545
references.citation: Science. 2012 Jul 6;337(6090):100-4
references.pmid: 22604722
references.citation: Methods Mol Biol. 2012;809:3-26
references.pmid: 22113265
references.citation: Nature. 2009 Sep 10;461(7261):272-6
references.pmid: 19684571
references.citation: Nat Biotechnol. 2013 Jan;31(1):46-53
references.pmid: 23222703
references.citation: Nature. 2011 Nov 30;480(7376):201-8
references.pmid: 22139419
references.citation: J Mol Diagn. 2012 Jul;14(4):357-66
references.pmid: 22658618
references.citation: Nat Genet. 2006 Mar;38(3):375-81
references.pmid: 16493422
references.citation: Blood. 2009 Nov 5;114(19):4099-107
references.pmid: 19706884
references.citation: Genome Res. 2013 Jul;23(7):1130-41
references.pmid: 23570689
references.citation: Nat Biotechnol. 2013 Mar;31(3):213-9
references.pmid: 23396013
references.citation: Curr Opin Genet Dev. 2012 Apr;22(2):72-8
references.pmid: 22195775
references.citation: Nat Methods. 2010 Feb;7(2):119-22
references.pmid: 20081835
references.citation: Annu Rev Biochem. 2000;69:497-529
references.pmid: 10966467
references.citation: Nature. 2010 May 20;465(7296):363-7
references.pmid: 20436457
references.citation: Nat Rev Genet. 2011 Sep 27;12(11):745-55
references.pmid: 21946919
references.citation: Nat Biotechnol. 2008 Oct;26(10):1135-45
references.pmid: 18846087
references.citation: Genet Med. 2013 Apr;15(4):258-67
references.pmid: 23306799
references.citation: Genome Res. 2009 Oct;19(10):1817-24
references.pmid: 19541912
references.citation: Adv Exp Med Biol. 2011;711:1-11
references.pmid: 21627038
references.citation: Nat Biotechnol. 2012 Feb 26;30(3):271-7
references.pmid: 22371084
references.citation: Nat Methods. 2011 Dec 18;9(2):176-8
references.pmid: 22179552
references.citation: Genome Biol. 2010;11(5):207
references.pmid: 20441614
references.citation: Am J Med Genet A. 2013 May;161A(5):935-50
references.pmid: 23610049
references.citation: Genome Biol. 2010;11(12):R119
references.pmid: 21143862
references.citation: Bioinformatics. 2012 Jul 15;28(14):1838-44
references.pmid: 22569178
references.citation: Nat Biotechnol. 2011 Jan;29(1):59-63
references.pmid: 21170042
references.citation: Nat Genet. 2011 May;43(5):491-8
references.pmid: 21478889
references.citation: Sci Transl Med. 2011 Jan 12;3(65):65ra4
references.pmid: 21228398
references.citation: Nature. 2012 Sep 6;489(7414):57-74
references.pmid: 22955616
references.citation: Hum Genomics. 2010 Apr;4(4):271-7
references.pmid: 20511140
references.citation: Nat Biotechnol. 2012 Feb 26;30(3):265-70
references.pmid: 22371081
references.citation: Proc Natl Acad Sci U S A. 2012 May 29;109(22):8676-81
references.pmid: 22589303
references.citation: Hum Mol Genet. 2008 Oct 15;17(R2):R156-65
references.pmid: 18852205
references.citation: Cold Spring Harb Perspect Biol. 2013 Apr 01;5(4):a012633
references.pmid: 23545421
references.citation: Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14508-13
references.pmid: 22853953
references.citation: Nature. 2008 Nov 6;456(7218):53-9
references.pmid: 18987734
references.citation: Genome Res. 2012 Aug;22(8):1525-32
references.pmid: 22585873
references.citation: Nat Rev Genet. 2005 Feb;6(2):95-108
references.pmid: 15716906
references.citation: Nat Methods. 2011 Jan;8(1):61-5
references.pmid: 21102452
references.citation: Nat Biotechnol. 2008 Oct;26(10):1146-53
references.pmid: 18846088
references.citation: Nat Biotechnol. 2012 Mar 25;30(4):349-53
references.pmid: 22446694
references.citation: Science. 2001 Feb 16;291(5507):1304-51
references.pmid: 11181995
references.citation: Nat Methods. 2008 Jul;5(7):621-8
references.pmid: 18516045
references.citation: Cell. 2012 Jan 20;148(1-2):84-98
references.pmid: 22265404
references.citation: Nat Methods. 2010 Apr;7(4):248-9
references.pmid: 20354512
references.citation: Bioinformatics. 2009 Nov 1;25(21):2865-71
references.pmid: 19561018
references.citation: Science. 2010 Jan 1;327(5961):78-81
references.pmid: 19892942
references.citation: Nat Biotechnol. 2012 Nov;30(11):1084-94
references.pmid: 23138308
references.citation: Nat Genet. 2013 Aug;45(8):852-9
references.pmid: 23793028
references.citation: Nat Rev Mol Cell Biol. 2006 May;7(5):335-46
references.pmid: 16612326
references.citation: Nature. 2001 Feb 15;409(6822):860-921
references.pmid: 11237011
references.citation: Nature. 2008 Nov 6;456(7218):66-72
references.pmid: 18987736
references.citation: Genome Biol. 2011;12(2):R18
references.pmid: 21338519
references.citation: Nat Methods. 2010 Jun;7(6):461-5
references.pmid: 20453866
references.citation: Science. 2012 Dec 21;338(6114):1619-22
references.pmid: 23160955
references.citation: Genet Med. 2011 Mar;13(3):255-62
references.pmid: 21173700
references.citation: Science. 2012 Jul 6;337(6090):64-9
references.pmid: 22604720
references.citation: Adv Genet. 2008;61:107-42
references.pmid: 18282504
references.citation: Nature. 2009 Oct 8;461(7265):747-53
references.pmid: 19812666
references.citation: Am J Med Genet A. 2012 Jul;158A(7):1523-5
references.pmid: 22628075
references.citation: Nat Biotechnol. 2012 Feb 14;30(4):344-8
references.pmid: 22334048
references.citation: Science. 2004 Oct 22;306(5696):636-40
references.pmid: 15499007
references.citation: Nature. 2013 Jan 10;493(7431):216-20
references.pmid: 23201682
references.citation: Nat Rev Genet. 2011 May;12(5):363-76
references.pmid: 21358748
references.citation: Blood. 2013 Jul 25;122(4):590-7
references.pmid: 23690449
references.citation: Science. 2005 Sep 9;309(5741):1728-32
references.pmid: 16081699
references.citation: Physiol Genomics. 2013 Jan 7;45(1):1-16
references.pmid: 23132758
references.citation: Genet Med. 2012 Apr;14(4):393-8
references.pmid: 22344227
references.citation: Nature. 2011 Jul 20;475(7356):348-52
references.pmid: 21776081
references.citation: Nature. 2012 Dec 20;492(7429):369-75
references.pmid: 23222517
references.citation: Am J Hum Genet. 2012 Nov 2;91(5):794-808
references.pmid: 23103231
references.citation: Science. 2009 Jan 2;323(5910):133-8
references.pmid: 19023044
references.citation: Nat Rev Genet. 2013 Feb;14(2):125-38
references.pmid: 23329113