Altmueller, Janine, Budde, Birgit S. and Nuernberg, Peter (2014). Enrichment of target sequences for next-generation sequencing applications in research and diagnostics. Biol. Chem., 395 (2). S. 231 - 238. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1437-4315

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Abstract

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

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Budde, Birgit S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-447332
DOI: 10.1515/hsz-2013-0199
Journal or Publication Title: Biol. Chem.
Volume: 395
Number: 2
Page Range: S. 231 - 238
Date: 2014
Publisher: WALTER DE GRUYTER GMBH
Place of Publication: BERLIN
ISSN: 1437-4315
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
FFPE TUMOR-TISSUES; MUTATIONS; QUALITY; GENOME; GENES; TOOLMultiple languages
Biochemistry & Molecular BiologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/44733

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