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A brief history of genetic variation analysis
KTH, Superseded Departments, Biotechnology.
KTH, Superseded Departments, Biotechnology.ORCID iD: 0000-0003-4313-1601
2002 (English)In: BioTechniques, ISSN 0736-6205, E-ISSN 1940-9818, Vol. 32, no 5, 1122-+ p.Article, review/survey (Refereed) Published
Abstract [en]

As the human genome sequence is determined, there is an emerging need for the analysis of human sequence variations as genetic markers in diagnosis, linkage and association studies, cancer research, and pharmacogenomics. There are several different techniques and approaches for detecting these genetic variations, and here we review some of these techniques and their application fields. However, all the techniques have advantages and disadvantages, and factors such as laboratory instrumentation, personnel experience, required accuracy, required throughput, and cost often have to be taken into account before selecting a method.

Place, publisher, year, edition, pages
2002. Vol. 32, no 5, 1122-+ p.
Keyword [en]
polymerase-chain-reaction, single-nucleotide polymorphisms, gradient gel-electrophoresis, tumor-suppressor gene, sickle-cell anemia, beta-globin gene, mutation detection, point mutations, human genome, oligonucleotide probes
Identifiers
URN: urn:nbn:se:kth:diva-21520ISI: 000175397900021OAI: oai:DiVA.org:kth-21520DiVA: diva2:340218
Note
QC 20100525Available from: 2010-08-10 Created: 2010-08-10 Last updated: 2017-12-12Bibliographically approved

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