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A finished sequence, covering more than 95% of the genome at approximately 99.99% accuracy; Producing a truly high-quality finished sequence by this definition is very expensive. Thus, most human "whole genome sequencing" results are draft sequences (sometimes above and sometimes below the accuracy defined above). [13]
The main diagonal represents the sequence's alignment with itself; lines off the main diagonal represent similar or repetitive patterns within the sequence. In bioinformatics a dot plot is a graphical method for comparing two biological sequences and identifying regions of close similarity after sequence alignment. It is a type of recurrence plot.
In the field of genetic sequencing, genotyping by sequencing, also called GBS, is a method to discover single nucleotide polymorphisms (SNP) in order to perform genotyping studies, such as genome-wide association studies . [1] GBS uses restriction enzymes to reduce genome complexity and genotype multiple DNA samples. [2]
A genome map is less detailed than a genome sequence and aids in navigating around the genome. [75] [76] An example of a variation map is the HapMap being developed by the International HapMap Project. The HapMap is a haplotype map of the human genome, "which will describe the common patterns of human DNA sequence variation."
Single-cell DNA genome sequencing involves isolating a single cell, amplifying the whole genome or region of interest, constructing sequencing libraries, and then applying next-generation DNA sequencing (for example Illumina, Ion Torrent). Single-cell DNA sequencing has been widely applied in mammalian systems to study normal physiology and ...
Duplex sequencing overview: Duplex tagged libraries containing sequencing adapters are amplified and result in two types of products each originates from a single strand of DNA. After sequencing the PCR products, the generated reads divide into tag families based on the genomic position, duplex tags, and the neighboring sequencing adapter.
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