Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

被引：0
|
作者：
Ana Lígia Buzolin
Caroline Mônaco Moreira
Patricia Rossi Sacramento
Andre Yuji Oku
Alexandre Ricardo dos Santos Fornari
David Santos Marco Antonio
Caio Robledo D Angioli Costa Quaio
Wagner Rosa Baratela
Miguel Mitne-Neto
机构：
[1] Fleury Group,Research and Development
来源：
Human Genomics | / 11卷
关键词：
Cancer; Breast; Ovarian; Ion Torrent; BRCA;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology
    Buzolin, Ana Ligia
    Moreira, Caroline Monaco
    Sacramento, Patricia Rossi
    Oku, Andre Yuji
    dos Santos Fornari, Alexandre Ricardo
    Marco Antonio, David Santos
    Angioli Costa Quaio, Caio Robledo D.
    Baratela, Wagner Rosa
    Mitne-Neto, Miguel
    HUMAN GENOMICS, 2017, 11
  • [2] Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes
    Yeo, Zhen Xuan
    Wong, Joshua Chee Leong
    Rozen, Steven G.
    Lee, Ann Siew Gek
    BMC GENOMICS, 2014, 15
  • [3] Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes
    Zhen Xuan Yeo
    Joshua Chee Leong Wong
    Steven G Rozen
    Ann Siew Gek Lee
    BMC Genomics, 15
  • [4] Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model
    Julien Tarabeux
    Bruno Zeitouni
    Virginie Moncoutier
    Henrique Tenreiro
    Khadija Abidallah
    Séverine Lair
    Patricia Legoix-Né
    Quentin Leroy
    Etienne Rouleau
    Lisa Golmard
    Emmanuel Barillot
    Marc-Henri Stern
    Thomas Rio-Frio
    Dominique Stoppa-Lyonnet
    Claude Houdayer
    European Journal of Human Genetics, 2014, 22 : 535 - 541
  • [5] Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model
    Tarabeux, Julien
    Zeitouni, Bruno
    Moncoutier, Virginie
    Tenreiro, Henrique
    Abidallah, Khadija
    Lair, Severine
    Legoix-Ne, Patricia
    Leroy, Quentin
    Rouleau, Etienne
    Golmard, Lisa
    Barillot, Emmanuel
    Stern, Marc-Henri
    Rio-Frio, Thomas
    Stoppa-Lyonnet, Dominique
    Houdayer, Claude
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (04) : 535 - 541
  • [6] Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations
    Zanella, Isabella
    Merola, Francesca
    Biasiotto, Giorgio
    Archetti, Silvana
    Spinelli, Elide
    Di Lorenzo, Diego
    EXPERIMENTAL AND MOLECULAR PATHOLOGY, 2017, 102 (02) : 314 - 320
  • [7] Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing
    Shin, Saeam
    Kim, Yoonjung
    Oh, Seoung Chul
    Yu, Nae
    Lee, Seung-Tae
    Choi, Jong Rak
    Lee, Kyung-A
    ONCOTARGET, 2017, 8 (21) : 34858 - 34866
  • [8] BRCA-analyzer: Automatic workflow for processing NGS reads of BRCA1 and BRCA2 genes
    Kechin, Andrey
    Khrapov, Evgeniy
    Boyarskikh, Uljana
    Kel, Alexander
    Filipenko, Maxim
    COMPUTATIONAL BIOLOGY AND CHEMISTRY, 2018, 77 : 297 - 306
  • [9] Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes
    Akbari, Mohammad R.
    Zhang, Shiyu
    Fan, Isabel
    Royer, Robert
    Li, Song
    Risch, Harvey
    McLaughlin, John
    Rosen, Barry
    Sun, Ping
    Narod, Steven A.
    JOURNAL OF MEDICAL GENETICS, 2011, 48 (11) : 783 - 786
  • [10] BRCA1 and BRCA2: two genes, multiple clinical applications
    Kuligina, Ekatherina Sh.
    Imyanitov, Evgeny N.
    TRANSLATIONAL CANCER RESEARCH, 2017, 6 : S995 - S998
12345