SNV Calling

The variant caller filters the set of filtered and realigned reads for SNV calling without affecting indel calls. Any contiguous trailing sequence of N base calls is trimmed from the ends of reads. Using a mismatch density filter, reads with an unexpectedly high number of disagreements with the reference are masked as follows.

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The variant caller identifies each insertion or deletion as a single mismatch.

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Base calls with more than 2 mismatches to the reference sequence within 20 bases of the call are ignored.

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If the call occurs within the first or last 20 bases of a read, the mismatch limit is applied to a 41-base window at the corresponding end of the read.

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The mismatch limit is applied to the entire read when the read length is 41 or shorter.

For Research Use Only. Not for use in diagnostic procedures.