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Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). [1] It consists of two steps: the first step is to select only the subset of DNA that encodes proteins .
Whole-exome sequencing is a recent technology that has led to the discovery of various genetic disorders and increased the rate of diagnoses of patients with rare genetic disorders. Overall, whole-exome sequencing has allowed healthcare providers to diagnose 30–50% of patients who were thought to have rare Mendelian disorders.
The probes then undergo circularization in this process. These probes, however, are designed such that a gap delimited by the hybridized ends of the probes remains over the target region. The size of the gap ranges from a single nucleotide for SNP genotyping [3] to several hundred nucleotides for loci capture (e.g. exome capture). [5] Gap filling
Brief work flow of whole exome sequencing; DNA double strands are first digested in to single strands. Coding area (exon) and non-coding area (intron) are differentiated, and linear DNA are fragmented into the genomic DNA. Hybridization on capture array for target (coding area) enrichment. Finally, assayed by DNA sequencing program.
In comparison, a 2016 whole exome sequencing study found 19 SNVs and 3 indels in 5 edited mice, while Schaefer et al. found 115 exonic SNVs and 9 indels in just 2 edited mice. [68] Many experts disagreed with the paper and criticized it through journal articles [ 68 ] and social media, suggesting that unusual CRISPR treatments were used in the ...
One of the main methods of pinpointing a NOTCH2 mutation that leads to HCS is through whole genome sequencing. This is then followed by exome capture by means of in-solution hybridization. The exome part of the genome consists of exons. Parallel sequencing follows the hybridization, which results in about 3.5 Gb of sequence data.
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