ABUTTING SEGMENT BOUNDARIES (ASBs)
A
discovery was made which from the outset seemed promising but a little hard to
understand. To
explain, 'abutting
segment boundaries' or ASBs are a type of segment boundary
coincidence in which 2 segment matches abut (we first reported
2 such cases
here in which the Cr2 8099555 event is accompanied by
the additional 8442248 event). Initially we (mistakenly) saw an
explanation of ASBs in meiosis, for 4 gametes are produced from one set of parental chromosomes. Complementary gametes show a parent's DNA rejected on one side of a
recombination appearing on the other side, thus producing an abutting boundary
coincidence which can survive to later generations. With some excitement our presentation
'Fun with Autosomal DNA' used this 'insight' to claim a Baruch
Lousada connection across 4 family branches. However Andrew Millard pointed out
that the statistics of sperm and egg utilization do not favour our 'insight'.
After our first 2 ASBs, new ones were discovered making
20 ASBs in
total but then we
found 2 more when ELL was added to the set of 12 relatives. For comparison,
a set of 13 non-relatives showed increased segment matches (2261 up from
2255), reduced RSBCs (17 not 46), but increased ASBs (46 not 31).
From what follows, it seemed that the terminal SNP of any reported
segment normally lies outside the actual segment.
For as GEDmatch advised on 24 Oct 2025: 'The
boundaries of a segment are practically impossible to get exactly correct.
There are alleles in positions which are not SNPs and the crossover is
likely not exactly at a SNP. So the mismatch at the front of the segment is
before the segment actually starts and the mismatch after the end of the
segment is after the segment ends. There is also the possibility that the
SNPs after the beginning of the mismatch at the beginning of the segment
happen by chance and the segment might actually start after the first
aligned SNP following the match. For example if the first SNP inside the
segment is AC then it will match what ever is in the other kit but the
crossover may be further in. The same is true at the end of the segment.
Finally if the two kits are not from the same vendor chip set there are SNPs
which do not align and had those SNPs been available the mismatch SNPs which
bound the segment may be different'.
From those comments, it appears that ASBs should be reported as having a 1
or 2 SNP overlap. But they aren't, so - in Qmatch -
we infer that GEDmatch reports a segment boundary halfway between the last misaligned and
the first aligned SNP. That is, as we belatedly realised, the GEDmatch comments above
refer to normal
matching, and not Qmatching. After all, Qmatch is a proprietary product the details of
which are kept secret and it is behind GEDmatch's (Tier 1) paywall. Qmatch was
recommended to us by GEDmatch for use with small matches, and we have indeed found
that without it ASBs do not appear (at least readily). In Qmatch it was easy
for us to notice ASBs unaided, because the end of one segment is reported as
numerically identical to the beginning of the other abutting segment! AI will be needed for sets larger than our 13 relatives to
avoid missing any ASBs, and this would also allow a search for ASBs showing
small overlaps or misses eg of a few hundred nucleotide positions (should
Qmatch methodology change and inadvertently remove exact ASB matching which
is currently so beneficial). In fact, even with our 13 person sets, AI
showed that ASBs were missed (4 out of 46 for the comparison set of 13, and
9 out of 31 for the 13 relatives).
The following diagram shows in essence what causes ASBs - starting with
3-person ASBs (3pASBs).
Thus, where an ancestral crossover in one
sibling is carried forward into a present-day descendant and is accompanied (in
2 further present-day descendants) by a stretch of each parent's DNA which
bridges the crossover, ASBs can result under
favourable circumstances. By this is meant that they will obviously not be detectable in cases where the ancestral parents match in the
region surrounding the crossover. In any event, it is important to consider
whether the ancestors defining an ASB are 'parents' as shown in the diagram
and not immediate ancestors thereof - which may not be a concern for us
because our 3cM match threshhold
size makes it likely that the ancestral family is no earlier than that of Amador de Lousada
(11
generations back):

In any case, our insight allows us to also understand the small number of 4-person
ASBs as well - for here, a pair of relatives from the same family branch
can act as a surrogate for Relative 1 in the above chart. That is, both of
the relatives in the pair carry the ancestral crossover - a situation which
of course is less common given the many reproductive events which might have
eliminated the crossover of interest.
Of the 22 3pASBs we found, the following chart shows how they fit the model,
and how they posed a challenge for us. The challenge was to
recognise that 14 ASBs relate not to the ancestral Amador/Briatis ancestral family
but to subsequent intra-branch crossovers. The same applies to 4 of the
4pASBs. The
real significance of the chart is that
our ASBs provide abundant evidence of interbranch connections. Further, we
are now able to associate an ancestral sibling with each relative, though we
are unable to distinguish Isaac from Abraham. To distinguish Isaac from
Abraham will need a DNA sample from the Surinam Baruch Lousadas - who, so
our genealogy tells us, descend from Isaac and not Abraham!

We can now see the potential of ASBs, for in the following chart of proven
matches, we have added the 21 extra 3pASB connections from the previous chart to our small
match procedure. We have also added the 10 extra 4pASB connections. It can be seen that
in total these ASB contributions greatly outnumber the 5 matches
from RSBCs and the 10 from Qmatch. This large ASB contribution depends on
genealogy, for the following reason. Though our comparison set of people
generates 50% more ASBs than our set of relatives, this modest figure
disguises two dramatic insights. The first is that while our sample of
relatives essentially entails just 6 ancestral families - Amador/Briatis,
Lichtenstadt, Montefiore, Nunes, Martin and one other, the comparison sample entails 10000 or so ancestral
families (given the way ancestor numbers double each generation -
remembering we are talking 11 generations). Thus the crossovers for the
relatives (speaking unsubtly) are 1000 times as important as those for the
comparison set. It is however worth considering whether ASBs may be able, in the absence of genealogical information, to
re-construct some lineages within a random sample - if that was of interest
to researchers connected to the people in the sample.