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Items: 1 to 20 of 324

1.

ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.

Lopez-Doriga A, Feliubadaló L, Menéndez M, Lopez-Doriga S, Morón-Duran FD, del Valle J, Tornero E, Montes E, Cuesta R, Campos O, Gómez C, Pineda M, González S, Moreno V, Capellá G, Lázaro C.

Hum Mutat. 2014 Mar;35(3):271-7.

PMID:
24227591
2.

Clinical application of amplicon-based next-generation sequencing in cancer.

Chang F, Li MM.

Cancer Genet. 2013 Dec;206(12):413-9. doi: 10.1016/j.cancergen.2013.10.003. Epub 2013 Oct 11. Review.

PMID:
24332266
3.

SNVerGUI: a desktop tool for variant analysis of next-generation sequencing data.

Wang W, Hu W, Hou F, Hu P, Wei Z.

J Med Genet. 2012 Dec;49(12):753-5. doi: 10.1136/jmedgenet-2012-101001. Epub 2012 Sep 28.

PMID:
23024288
4.

Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.

Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.

BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.

5.

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C.

Eur J Hum Genet. 2013 Aug;21(8):864-70. doi: 10.1038/ejhg.2012.270. Epub 2012 Dec 19.

6.

Analysis of next-generation sequencing data using Galaxy.

Blankenberg D, Hillman-Jackson J.

Methods Mol Biol. 2014;1150:21-43. doi: 10.1007/978-1-4939-0512-6_2.

PMID:
24743989
7.

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

Li J, Jiang Y, Wang T, Chen H, Xie Q, Shao Q, Ran X, Xia K, Sun ZS, Wu J.

J Med Genet. 2015 Apr;52(4):275-81. doi: 10.1136/jmedgenet-2014-102656. Epub 2015 Jan 16.

PMID:
25596308
8.

ASEQ: fast allele-specific studies from next-generation sequencing data.

Romanel A, Lago S, Prandi D, Sboner A, Demichelis F.

BMC Med Genomics. 2015 Mar 1;8:9. doi: 10.1186/s12920-015-0084-2.

9.

Next-generation sequencing: ready for the clinics?

Desai AN, Jere A.

Clin Genet. 2012 Jun;81(6):503-10. doi: 10.1111/j.1399-0004.2012.01865.x. Epub 2012 Apr 9. Review.

PMID:
22375550
10.

Online resources for genomic analysis using high-throughput sequencing.

Blankenberg D, Taylor J, Nekrutenko A.

Cold Spring Harb Protoc. 2015 Feb 5;2015(4):324-35. doi: 10.1101/pdb.top083667.

PMID:
25655493
11.

DDBJ read annotation pipeline: a cloud computing-based pipeline for high-throughput analysis of next-generation sequencing data.

Nagasaki H, Mochizuki T, Kodama Y, Saruhashi S, Morizaki S, Sugawara H, Ohyanagi H, Kurata N, Okubo K, Takagi T, Kaminuma E, Nakamura Y.

DNA Res. 2013 Aug;20(4):383-90. doi: 10.1093/dnares/dst017. Epub 2013 May 8.

12.

AMPLISAS: a web server for multilocus genotyping using next-generation amplicon sequencing data.

Sebastian A, Herdegen M, Migalska M, Radwan J.

Mol Ecol Resour. 2016 Mar;16(2):498-510. doi: 10.1111/1755-0998.12453. Epub 2015 Aug 26.

PMID:
26257385
13.

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

Hernan I, Borràs E, de Sousa Dias M, Gamundi MJ, Mañé B, Llort G, Agúndez JA, Blanca M, Carballo M.

J Mol Diagn. 2012 May-Jun;14(3):286-93. doi: 10.1016/j.jmoldx.2012.01.013. Epub 2012 Mar 16.

PMID:
22426013
14.

Clinical validation of targeted next-generation sequencing for inherited disorders.

Yohe S, Hauge A, Bunjer K, Kemmer T, Bower M, Schomaker M, Onsongo G, Wilson J, Erdmann J, Zhou Y, Deshpande A, Spears MD, Beckman K, Silverstein KA, Thyagarajan B.

Arch Pathol Lab Med. 2015 Feb;139(2):204-10. doi: 10.5858/arpa.2013-0625-OA.

PMID:
25611102
15.

DaMold: A data-mining platform for variant annotation and visualization in molecular diagnostics research.

Pandey RV, Pabinger S, Kriegner A, Weinhäusel A.

Hum Mutat. 2017 Jul;38(7):778-787. doi: 10.1002/humu.23227. Epub 2017 May 30.

PMID:
28397319
16.

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

Luzón-Toro B, Espino-Paisán L, Fernández RM, Martín-Sánchez M, Antiñolo G, Borrego S.

BMC Med Genet. 2015 Oct 5;16:89. doi: 10.1186/s12881-015-0235-5.

17.

ORIO (Online Resource for Integrative Omics): a web-based platform for rapid integration of next generation sequencing data.

Lavender CA, Shapiro AJ, Burkholder AB, Bennett BD, Adelman K, Fargo DC.

Nucleic Acids Res. 2017 Jun 2;45(10):5678-5690. doi: 10.1093/nar/gkx270.

18.

NGS for Sequence Variants.

Teng S.

Adv Exp Med Biol. 2016;939:1-20.

PMID:
27807741
19.

GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.

Stade B, Seelow D, Thomsen I, Krawczak M, Franke A.

BMC Genomics. 2014;15 Suppl 4:S8. doi: 10.1186/1471-2164-15-S4-S8. Epub 2014 May 20.

20.

Ten years of next-generation sequencing technology.

van Dijk EL, Auger H, Jaszczyszyn Y, Thermes C.

Trends Genet. 2014 Sep;30(9):418-26. doi: 10.1016/j.tig.2014.07.001. Epub 2014 Aug 6. Review.

PMID:
25108476

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