DNA SEQUENCING SEQUENCHER HETEROZYGOUS MUTATIONS MANUAL
This manual approach is affected by variations in sequence quality and incorrect base calling, and may also miss heterozygous bases if, for example, the wild-type peak is higher that the additional peak. Consequently, many small-scale projects may rely solely on manual analysis, for example simply carrying out a direct text comparison of the processed sequence to a known reference. However these are sophisticated and multifunctional programs, and can prove overly complex for simple sequence comparisons. In some cases, software such as the Staden package or Sequencher may provide a suitable solution. Identification of point mutations is of equal importance to many researchers, for roles as diverse as identifying specific alterations caused by random mutagenesis screens to validation of the fidelity of sequences amplified by PCR.įor labs studying SNPs or point mutations, identification of these can be a time-consuming and error-prone process, particularly if novel changes are being investigated. The identification and characterisation of naturally-occurring single nucleotide polymorphisms (SNPs) underlies a vast body of work on genetically-linked disorders, diagnosis and risk prediction as well as being important in genomic mapping and population genetics. The ability to identify single nucleotide changes in DNA is a fundamental requirement in many fields of biological research.
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