Wham clusters all of the applicant breakpoints and rounds their positions to the closest tenth base pair. The place with the best browse guidance is reported. Should the delicate-clipped consensus sequence might be aligned to the putative breakpoint location utilizing the Smith-Waterman algorithm, the breakpoint is even further refined to the location of your consensus sequence alignment [28]. The level of assist for your breakpoint is shown in the “SP” info industry.
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Translocations and structural variants larger than 1 Mb bear supplemental filtering. These courses of SVs is often highly deleterious genomic aberrations; as a result we involve them to have more support. Large intra-chromosomal SVs require that the other breakpoint (outside pileup posture) have a minimum of two reads supporting the precise breakpoint.
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