Title:
RAPID GENETIC SCREENING METHOD USING NEXT GENERATION SEQUENCER
Document Type and Number:
WIPO Patent Application WO/2018/135464
Kind Code:
A1
Abstract:
The present invention makes it possible to provide a genetic screening method which is quick, highly precise, and inexpensive by pooling libraries that have been created, combining therewith a hybridization-based target enrichment system, and performing genetic screening using next generation sequencing.
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Inventors:
NAKAOKA HIROFUMI (JP)
INOUE ITURO (JP)
INOUE ITURO (JP)
Application Number:
PCT/JP2018/000952
Publication Date:
July 26, 2018
Filing Date:
January 16, 2018
Export Citation:
Assignee:
INTER UNIV RESEARCH INSTITUTE CORPORATION RESEARCH ORGANIZATION OF INFORMATION AND SYSTEMS (JP)
International Classes:
C12Q1/68; G01N33/53
Other References:
WALSH, TOM . ET AL.: "Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing", PNAS, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES, vol. 107, no. 28, 28 June 2010 (2010-06-28), pages 12629 - 12633, XP055128035
BOSDET IAN E. ET AL.: "A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations", JOURNAL OF MOLECULAR DIAGNOSTICS, vol. 15, November 2013 (2013-11-01), pages 796 - 809, XP055519408
STROM CHARLES M. ET AL.: "Development and validation of a next-generation sequencing assay for BRCA1 and BRCA2 variants for the clinical laboratory", PLOS ONE, vol. 10, no. 8, 21 August 2015 (2015-08-21), XP055519410
AHMADLOO, S. , ET AL.: "Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2", JOURNAL OF HUMAN GENETICS, vol. 62, no. 5, February 2017 (2017-02-01), pages 561 - 567, XP055519411
LINCOLN STEPHEN E. ET AL.: "A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients", JOURNAL OF MOLECULAR DIAGNOSTICS, vol. 17, no. 5, September 2015 (2015-09-01), pages 533 - 544, XP055519415
CHONG HANSOOK KIM ET AL.: "The validation and clinical implementation of BRCAplus: A comprehensive high-risk breast cancer diagnostic assay", PLOS ONE, vol. 9, no. 5, 15 May 2014 (2014-05-15), XP055519416
HIGASHINO TOSHIHIDE ET AL.: "Multiple common and rare variants of ABCG2 cause gout", RMD OPEN, vol. 3, no. 2, August 2017 (2017-08-01), XP055519417
BOSDET IAN E. ET AL.: "A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations", JOURNAL OF MOLECULAR DIAGNOSTICS, vol. 15, November 2013 (2013-11-01), pages 796 - 809, XP055519408
STROM CHARLES M. ET AL.: "Development and validation of a next-generation sequencing assay for BRCA1 and BRCA2 variants for the clinical laboratory", PLOS ONE, vol. 10, no. 8, 21 August 2015 (2015-08-21), XP055519410
AHMADLOO, S. , ET AL.: "Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2", JOURNAL OF HUMAN GENETICS, vol. 62, no. 5, February 2017 (2017-02-01), pages 561 - 567, XP055519411
LINCOLN STEPHEN E. ET AL.: "A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients", JOURNAL OF MOLECULAR DIAGNOSTICS, vol. 17, no. 5, September 2015 (2015-09-01), pages 533 - 544, XP055519415
CHONG HANSOOK KIM ET AL.: "The validation and clinical implementation of BRCAplus: A comprehensive high-risk breast cancer diagnostic assay", PLOS ONE, vol. 9, no. 5, 15 May 2014 (2014-05-15), XP055519416
HIGASHINO TOSHIHIDE ET AL.: "Multiple common and rare variants of ABCG2 cause gout", RMD OPEN, vol. 3, no. 2, August 2017 (2017-08-01), XP055519417
Attorney, Agent or Firm:
SHIRAKATA Yumiko (JP)
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