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Commit 1a1a4030 authored by João Henrique Chrusciel's avatar João Henrique Chrusciel
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docs: record the NUMT failure mode and the rescue design



Whole-genome alignment fails as a NUMT defence when a nuclear copy is near-identical
to mtDNA: reads contained in the copied segment tie, get MAPQ 0, and the step-2
filter removes them. Records the mouse chr1 copy (chrM 6,393-11,042, 99.96 percent
on GRCm39), the derivation of NUMT loci per build, the rescue by realignment of
chrM and NUMT-locus reads to the mitochondrial contig alone, the filter on unaligned
bases that separates nuclear flanks from adapters, the decision rule, the handling
of split reads at the origin, and the measured outcome on the three projects.

Co-Authored-By: default avatarClaude Fable 5.1 <[email protected]>
parent b9495f1d
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