Long-Read Sequencing Emerging in Medical Genetics.
long-read sequencing
medical genetics
next-generation sequencing
phasing
pseudogenes
structural variation
tandem repeat expansion
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2019
2019
Historique:
received:
25
10
2018
accepted:
18
04
2019
entrez:
29
5
2019
pubmed:
28
5
2019
medline:
28
5
2019
Statut:
epublish
Résumé
The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural variants, sequencing repetitive regions, phasing of alleles and distinguishing highly homologous genomic regions. These limitations may significantly contribute to the diagnostic gap in patients with genetic disorders who have undergone standard NGS, like whole exome or even genome sequencing. Now, the emerging long-read sequencing (LRS) technologies may offer improvements in the characterization of genetic variation and regions that are difficult to assess with the prevailing NGS approaches. LRS has so far mainly been used to investigate genetic disorders with previously known or strongly suspected disease loci. While these targeted approaches already show the potential of LRS, it remains to be seen whether LRS technologies can soon enable true whole genome sequencing routinely. Ultimately, this could allow the
Identifiants
pubmed: 31134132
doi: 10.3389/fgene.2019.00426
pmc: PMC6514244
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
426Références
G3 (Bethesda). 2013 Mar;3(3):387-97
pubmed: 23450794
Mol Neurodegener. 2018 Aug 21;13(1):46
pubmed: 30126445
Trends Biotechnol. 2019 Jan;37(1):72-85
pubmed: 30115375
Bioinformatics. 2018 Jul 1;34(13):i115-i123
pubmed: 29949971
BMC Genomics. 2012 Aug 05;13:375
pubmed: 22863213
Nanotechnology. 2015 Feb 20;26(7):074004
pubmed: 25642629
Nat Methods. 2018 Mar;15(3):201-206
pubmed: 29334379
Hum Mutat. 2017 Mar;38(3):310-316
pubmed: 28044414
PLoS One. 2017 Oct 4;12(10):e0184741
pubmed: 28977016
Nature. 2012 Nov 1;491(7422):56-65
pubmed: 23128226
Nat Commun. 2016 Jun 30;7:12065
pubmed: 27356984
Nat Biotechnol. 2012 Aug;30(8):771-6
pubmed: 22797562
Genome Res. 2019 Apr;29(4):635-645
pubmed: 30894395
Genome Res. 2019 Jul;29(7):1178-1187
pubmed: 31186302
Genome Res. 2017 May;27(5):677-685
pubmed: 27895111
Front Genet. 2018 May 16;9:150
pubmed: 29868108
Genome Res. 2017 Nov;27(11):1895-1903
pubmed: 28887402
Genome Res. 2017 May;27(5):757-767
pubmed: 28381613
Nature. 2015 Oct 1;526(7571):75-81
pubmed: 26432246
Genet Med. 2018 Jan;20(1):159-163
pubmed: 28640241
Nat Methods. 2018 Jun;15(6):461-468
pubmed: 29713083
Genome Biol. 2012 Sep 26;13(9):R51
pubmed: 22951037
Mol Genet Genomics. 2016 Jun;291(3):1491-504
pubmed: 26825750
Nat Methods. 2013 Dec;10(12):1177-84
pubmed: 24185837
Acta Neuropathol. 2017 Nov;134(5):691-703
pubmed: 28638988
Nature. 2012 Jul 11;487(7406):190-5
pubmed: 22785314
Genome Res. 2013 Jan;23(1):121-8
pubmed: 23064752
BMC Genomics. 2018 Mar 27;19(1):219
pubmed: 29580219
Nucleic Acids Res. 2018 Sep 19;46(16):8275-8298
pubmed: 29947794
Cell. 2018 Feb 22;172(5):897-909.e21
pubmed: 29474918
Nucleic Acids Res. 2012 May;40(10):e72
pubmed: 22323520
Nucleic Acids Res. 2018 Mar 16;46(5):2159-2168
pubmed: 29401301
Hum Mutat. 2017 Mar;38(3):324-331
pubmed: 27883256
BMC Genomics. 2015 Mar 19;16:214
pubmed: 25887218
Genes (Basel). 2018 Oct 09;9(10):
pubmed: 30304863
Genome Biol. 2018 Mar 29;19(1):46
pubmed: 29598823
J Med Genet. 2015 Sep;52(9):587-94
pubmed: 26185143
Am J Hum Genet. 2017 Nov 2;101(5):700-715
pubmed: 29100084
Nat Biotechnol. 2018 Oct 15;:
pubmed: 30320766
PLoS Genet. 2018 Nov 12;14(11):e1007780
pubmed: 30419018
Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13770-3
pubmed: 8943010
J Mol Diagn. 2018 Mar;20(2):195-202
pubmed: 29269280
Genet Med. 2016 Dec;18(12):1282-1289
pubmed: 27228465
Nat Methods. 2015 Apr;12(4):351-6
pubmed: 25686389
Nat Rev Genet. 2006 Feb;7(2):85-97
pubmed: 16418744
Nat Protoc. 2017 Jun;12(6):1151-1176
pubmed: 28492527
Science. 2003 Jan 31;299(5607):682-6
pubmed: 12560545
Hum Mutat. 2017 Jul;38(7):870-879
pubmed: 28378423
Nucleic Acids Res. 2018 Aug 21;46(14):e87
pubmed: 29788371
Genome Biol. 2011 Sep 14;12(9):228
pubmed: 21920049
Bioinformatics. 2005 Dec 15;21(24):4320-1
pubmed: 16332717
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Sci Rep. 2018 Feb 16;8(1):3159
pubmed: 29453452
Nature. 2017 Oct 19;550(7676):345-353
pubmed: 29019985
Nat Rev Genet. 2016 Aug 16;17(9):507-22
pubmed: 27528417
Nature. 2014 Jul 17;511(7509):344-7
pubmed: 24896178
Genome Res. 2018 Aug;28(8):1126-1135
pubmed: 29954844
Genomics. 2019 Sep;111(5):1108-1114
pubmed: 30006036
Acta Neuropathol. 2017 Sep;134(3):475-487
pubmed: 28447221
Nat Commun. 2017 Nov 6;8(1):1326
pubmed: 29109544
Nat Genet. 2013 Apr;45(4):406-14, 414e1-2
pubmed: 23435088
Nat Methods. 2016 Sep;13(9):751-4
pubmed: 27454285
Nat Methods. 2011 Dec 18;9(2):176-8
pubmed: 22179552
NPJ Parkinsons Dis. 2017 Sep 5;3:27
pubmed: 28890930
Nat Rev Genet. 2016 May 17;17(6):333-51
pubmed: 27184599
Science. 1991 Jun 21;252(5013):1711-4
pubmed: 1675488
Nat Genet. 2018 Apr;50(4):581-590
pubmed: 29507423
Sci Transl Med. 2017 Apr 19;9(386):
pubmed: 28424332
Nat Biotechnol. 2019 Oct;37(10):1155-1162
pubmed: 31406327
Int J Mol Sci. 2021 Mar 31;22(7):
pubmed: 33807210
Mutat Res. 2016 Feb-Mar;784-785:39-45
pubmed: 26829216
Curr Protoc Hum Genet. 2003 Nov;Chapter 9:Unit9.5
pubmed: 18428348
Eur J Hum Genet. 2010 May;18(5):539-43
pubmed: 19953122
Nature. 2016 Oct 13;538(7624):243-247
pubmed: 27706134
Nat Biotechnol. 2011 Jan;29(1):59-63
pubmed: 21170042
Hereditas. 2018 Sep 28;155:32
pubmed: 30279644
Nucleic Acids Res. 2010 Aug;38(15):e159
pubmed: 20571086
Mol Psychiatry. 2020 Jan;25(1):37-47
pubmed: 31695164
Nat Nanotechnol. 2009 Apr;4(4):265-70
pubmed: 19350039
Eur J Hum Genet. 2001 Apr;9(4):291-300
pubmed: 11313774
Proc Natl Acad Sci U S A. 2018 Sep 25;115(39):9726-9731
pubmed: 30201725
Nature. 2015 Jan 29;517(7536):608-11
pubmed: 25383537
Nat Commun. 2015 Sep 01;6:8101
pubmed: 26323354
Sci Rep. 2016 Feb 17;6:21746
pubmed: 26883533
Nat Biotechnol. 2016 Mar;34(3):303-11
pubmed: 26829319
Nat Genet. 2016 Aug;48(8):935-9
pubmed: 27322544
Eur J Hum Genet. 2018 Jan;26(1):94-106
pubmed: 29162933
PLoS Genet. 2011 Dec;7(12):e1002384
pubmed: 22144907
Am J Hum Genet. 2018 Sep 6;103(3):421-430
pubmed: 30100087
J Am Chem Soc. 2015 Aug 5;137(30):9587-94
pubmed: 26147714
Breast Cancer Res. 2017 Nov 28;19(1):127
pubmed: 29183387
Front Bioeng Biotechnol. 2015 Jun 25;3:92
pubmed: 26161383
J Mol Diagn. 2014 Mar;16(2):216-28
pubmed: 24374109
Nat Biotechnol. 2014 Mar;32(3):261-266
pubmed: 24561555
Genome Biol. 2013 Jul 03;14(7):405
pubmed: 23822731
Am J Hum Genet. 2015 Jun 4;96(6):894-912
pubmed: 25983246
Ann Hum Genet. 2012 Mar;76(2):178-91
pubmed: 22188182
Nat Methods. 2015 Aug;12(8):780-6
pubmed: 26121404
PLoS One. 2015 Aug 21;10(8):e0135906
pubmed: 26295943
Nat Biotechnol. 2018 Apr;36(4):338-345
pubmed: 29431738
BMC Genomics. 2012 Jul 24;13:341
pubmed: 22827831
PLoS One. 2011;6(7):e22097
pubmed: 21789217
Brief Funct Genomic Proteomic. 2004 Aug;3(2):157-67
pubmed: 15355597
J Med Genet. 2019 Apr;56(4):265-270
pubmed: 30194086
Nat Biotechnol. 2016 May 6;34(5):518-24
pubmed: 27153285
Nat Rev Genet. 2018 Jun;19(6):329-346
pubmed: 29599501
Hum Mol Genet. 2010 Oct 15;19(R2):R227-40
pubmed: 20858600
Methods Mol Biol. 2014;1167:303-15
pubmed: 24823787
Hum Mutat. 2016 Mar;37(3):315-23
pubmed: 26602992
Prenat Diagn. 2017 Nov;37(11):1146-1154
pubmed: 28921562
Nat Commun. 2019 Apr 16;10(1):1784
pubmed: 30992455
Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):18904-9
pubmed: 24167255
F1000Res. 2015 Jan 21;4:17
pubmed: 25901276
Proc Natl Acad Sci U S A. 2016 May 10;113(19):5233-8
pubmed: 27091962
Nat Rev Genet. 2011 Nov 29;13(1):36-46
pubmed: 22124482
Nat Methods. 2010 Jun;7(6):461-5
pubmed: 20453866
Hum Reprod. 2017 Mar 1;32(3):687-697
pubmed: 28158716
Hum Mutat. 2012 Jun;33(6):963-72
pubmed: 22334370
Trends Genet. 2018 Sep;34(9):666-681
pubmed: 29941292
Hum Mutat. 2003 Jan;21(1):8-11
pubmed: 12497627
Nat Biotechnol. 2011 Jan;29(1):51-7
pubmed: 21170043
Nat Commun. 2017 Jul 19;8:16027
pubmed: 28722025
Nat Biotechnol. 2013 Nov;31(11):1009-14
pubmed: 24108091
Haematologica. 2018 Jan;103(1):e13-e16
pubmed: 29079597
Nat Rev Genet. 2011 May;12(5):363-76
pubmed: 21358748
Hum Mol Genet. 2018 Aug 1;27(R2):R234-R241
pubmed: 29767702
Genome Res. 2018 Oct;28(10):1566-1576
pubmed: 30228200
Nat Rev Genet. 2015 Nov;16(11):627-40
pubmed: 26442640
Genet Med. 2015 May;17(5):358-64
pubmed: 25210937
Eur J Hum Genet. 2018 Nov;26(11):1635-1647
pubmed: 29967337
Genome Biol. 2019 Nov 14;20(1):239
pubmed: 31727106
Proc Natl Acad Sci U S A. 2008 Dec 30;105(52):20647-52
pubmed: 19098105
Hum Mutat. 2018 Sep;39(9):1262-1272
pubmed: 29932473
Am J Hum Genet. 2013 Oct 3;93(4):687-96
pubmed: 24094745
Hum Mol Genet. 2017 Mar 15;26(6):1070-1077
pubmed: 28158657
Nat Commun. 2017 Jun 12;8:15824
pubmed: 28604674
Science. 2009 Jan 2;323(5910):133-8
pubmed: 19023044
Nat Rev Genet. 2011 Mar;12(3):215-23
pubmed: 21301473
NPJ Genom Med. 2018 Jan 22;3:3
pubmed: 29367880