Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

作者: Janine Altmüller , Birgit S. Budde , Peter Nürnberg

DOI: 10.1515/HSZ-2013-0199

关键词:

摘要: Abstract Targeted re-sequencing such as gene panel sequencing (GPS) has become very popular in medical genetics, both for research projects and diagnostic settings. The technical principles of the different enrichment methods have been reviewed several times before; however, new products are constantly entering market, researchers often puzzled about requirement to take decisions long-term commitments, product technology. This review summarizes important considerations experimental design provides helpful recommendations choosing best strategy various applications.

参考文章(18)
CS Ku, DN Cooper, B Iacopetta, DH Roukos, Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition Clinical Genetics. ,vol. 83, pp. 2- 6 ,(2013) , 10.1111/CGE.12028
José Luis Costa, Sónia Sousa, Ana Justino, Teresa Kay, Susana Fernandes, Luis Cirnes, Fernando Schmitt, José Carlos Machado, Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting Human Mutation. ,vol. 34, pp. 629- 635 ,(2013) , 10.1002/HUMU.22272
Jay Shendure, Erez Lieberman Aiden, The expanding scope of DNA sequencing Nature Biotechnology. ,vol. 30, pp. 1084- 1094 ,(2012) , 10.1038/NBT.2421
R. M. Damian Holsinger, Nelleke Goense, John Bohorquez, Padraig Strappe, Splice variants of the Alzheimer's disease beta-secretase, BACE1. Neurogenetics. ,vol. 14, pp. 1- 9 ,(2013) , 10.1007/S10048-012-0348-3
Antje K. Huebner, Marta Gandia, Peter Frommolt, Anika Maak, Eva M. Wicklein, Holger Thiele, Janine Altmüller, Florian Wagner, Antonio Viñuela, Luis A. Aguirre, Felipe Moreno, Hannes Maier, Isabella Rau, Sebastian Gießelmann, Gudrun Nürnberg, Andreas Gal, Peter Nürnberg, Christian A. Hübner, Ignacio del Castillo, Ingo Kurth, Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-chromosomal Hearing Loss American Journal of Human Genetics. ,vol. 88, pp. 621- 627 ,(2011) , 10.1016/J.AJHG.2011.04.007
J. B. Hiatt, C. C. Pritchard, S. J. Salipante, B. J. O'Roak, J. Shendure, Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Research. ,vol. 23, pp. 843- 854 ,(2013) , 10.1101/GR.147686.112
Dennis Lal, Kerstin Becker, Susanne Motameny, Janine Altmüller, Holger Thiele, Peter Nürnberg, Uwe Ahting, Boris Rolinski, Bernd A. Neubauer, Andreas Hahn, Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics. ,vol. 14, pp. 85- 87 ,(2013) , 10.1007/S10048-013-0355-Z
Eric J Duncavage, Haley J Abel, Philippe Szankasi, Todd W Kelley, John D Pfeifer, Targeted next generation sequencing of clinically significant gene mutations and translocations in leukemia Modern Pathology. ,vol. 25, pp. 795- 804 ,(2012) , 10.1038/MODPATHOL.2012.29
Virinder Kaur Sarhadi, Leo Lahti, Ilari Scheinin, Anne Tyybäkinoja, Suvi Savola, Anu Usvasalo, Riikka Räty, Erkki Elonen, Pekka Ellonen, Ulla M. Saarinen-Pihkala, Sakari Knuutila, Targeted Resequencing of 9p in Acute Lymphoblastic Leukemia Yields Concordant Results with Array CGH and Reveals Novel Genomic Alterations Genomics. ,vol. 102, pp. 182- 188 ,(2013) , 10.1016/J.YGENO.2013.01.001