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fix(archaic): bring the Neanderthal share on HG002 in line with the published figure for the same method - #3

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geiresx wants to merge 4 commits into
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@geiresx geiresx commented Nov 4, 2026

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…ublished figure for the same method

Step 43 built its table from every site that lifted to GRCh38, so IBDmix
scored positions the archaic genomes cannot be read at. On HG002 that gave
115.2 Mb of Neanderthal sequence, about twice the published figure for the
same method and cutoffs.

The table now applies the masks the method's authors apply: each archaic
genome is read only inside its own MPI-EVA FilterBed (new --mask option of
archaic_report.py table, a site outside it is unknown for that genome), and
a row outside the 1000 Genomes GRCh38 strict mask is dropped. setup.sh
downloads both, each pinned by sha256, and the data version moves to
snpad2016-1kgp3-v2.

The e2e case builds the whole of chr22 instead of a 10 Mb slice and checks
HG002's chr22 Neanderthal total against Chen et al.'s own released calls
for 497 Europeans, plus that no table row falls outside the strict mask.
The masks alone cut HG002's chr22 Neanderthal total from 1,748 kb to
1,343 kb, still above the 95th percentile of the published per-person
calls. Two of the three exclusions the method's authors also apply were
missing: segmental duplications and the 5 bp around a modern indel. The
table build now takes --exclude and drops those sites. The third, the CpG
mask, needs a GRCh37 reference and three primate SNP sets this pipeline
does not install, and the doc says what that leaves in.

The e2e case gates on the published spread instead of the 95th percentile,
prints where HG002 falls inside it, and checks the filters removed sites.
The majority-allele control now bounds its Neanderthal sequence at a
quarter of HG002's: with fewer sites left to contradict a stretch, a few
segments scrape over LOD 4 and 50 kb.
@geiresx geiresx closed this Nov 4, 2026
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geiresx deleted the pgp/archaic-fix branch November 4, 2026 22:13
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