Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression.
allelic expression
compound heterozygous mutation
next-generation sequencing
phase analysis
targeted double-stranded cDNA sequencing
Journal
Biology
ISSN: 2079-7737
Titre abrégé: Biology (Basel)
Pays: Switzerland
ID NLM: 101587988
Informations de publication
Date de publication:
24 Mar 2021
24 Mar 2021
Historique:
received:
05
03
2021
revised:
22
03
2021
accepted:
22
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
4
4
2021
Statut:
epublish
Résumé
There are two combinations of heterozygous mutation, i.e.,
Identifiants
pubmed: 33804940
pii: biology10040256
doi: 10.3390/biology10040256
pmc: PMC8063809
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Kanazawa Medical University
ID : 11181
Organisme : Kanazawa Medical University
ID : 26699
Références
Mol Genet Genomic Med. 2020 Oct;8(10):e1428
pubmed: 32770663
Brief Bioinform. 2016 Jan;17(1):154-79
pubmed: 26026159
J Mol Diagn. 2010 Sep;12(5):539-51
pubmed: 20805560
Mutat Res Rev Mutat Res. 2014 Oct-Dec;762:52-64
pubmed: 25485595
Biomol Detect Quantif. 2015 Mar;3:1-8
pubmed: 26753127
J Hum Genet. 2016 Jun;61(6):547-53
pubmed: 26911352
Sci Data. 2020 Nov 17;7(1):399
pubmed: 33203859
Clin Genet. 2015 Aug;88(2):155-60
pubmed: 25046119
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Bioinformatics. 2011 Aug 1;27(15):2156-8
pubmed: 21653522
PLoS Genet. 2020 May 11;16(5):e1008786
pubmed: 32392242
RNA Biol. 2021 Jan 20;:1-8
pubmed: 33472537
Nat Methods. 2015 Apr;12(4):357-60
pubmed: 25751142
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Biochem Genet. 1993 Aug;31(7-8):321-8
pubmed: 8274138
PLoS Genet. 2014 May 01;10(5):e1004304
pubmed: 24786518
Nucleic Acids Res. 2001 Jan 1;29(1):308-11
pubmed: 11125122
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Nat Commun. 2017 Nov 3;8(1):1293
pubmed: 29101320
Clin Biochem Rev. 2011 Nov;32(4):177-95
pubmed: 22147957
Bioinformatics. 2008 Aug 15;24(16):i153-9
pubmed: 18689818
J Comput Biol. 2015 Jun;22(6):498-509
pubmed: 25658651
J Mol Diagn. 2021 Apr;23(4):424-446
pubmed: 33486073
Nat Rev Genet. 2009 Jan;10(1):57-63
pubmed: 19015660
Parkinsonism Relat Disord. 2019 May;62:128-133
pubmed: 30655162
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
Hum Genet. 2017 Jun;136(6):665-677
pubmed: 28349240
Hum Mol Genet. 1999;8(10):1893-900
pubmed: 10469842
Science. 2012 Feb 17;335(6070):823-8
pubmed: 22344438
Nat Biotechnol. 2018 Apr;36(4):338-345
pubmed: 29431738
Genome Res. 2017 Mar;27(3):491-499
pubmed: 28100584
Hum Mutat. 2016 Mar;37(3):235-41
pubmed: 26555599
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
Int J Mol Sci. 2020 May 16;21(10):
pubmed: 32429412
Bioinformatics. 2013 Sep 15;29(18):2245-52
pubmed: 23825370
Mol Genet Metab Rep. 2019 Mar 01;19:100464
pubmed: 30891420
Bioinformatics. 2010 Mar 15;26(6):841-2
pubmed: 20110278
Nat Rev Genet. 2015 Jun;16(6):344-58
pubmed: 25948246
Brief Bioinform. 2013 Mar;14(2):178-92
pubmed: 22517427
Nucleic Acids Res. 2018 Jan 4;46(D1):D551-D557
pubmed: 29069501
Am J Hum Genet. 2013 Oct 3;93(4):687-96
pubmed: 24094745