Biological Identity Overview Recent favorable trends in Genetic Testing How I embarked on The Search How to find YOUR Biological Parents or any other relatives using Genetic Testing A Sample Case ID: 642875
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Slide1
“Know Thyself”
A Search for One’s
(Biological) IdentitySlide2
Overview
Recent favorable trends in Genetic Testing
How I embarked on The Search
How to find YOUR Biological Parents (or any other relatives) using Genetic
Testing
A
Sample “Case”
A Blow-by-blow Walkthrough of the “Weiss Case”
Parting Thoughts and Observations
Q & A?Slide3
The Miracle
of Cheap Genetic Tests
23andme,
FtDNA
,
AncestryDNA
Cost of sequencing falling
rapidly
Popularity
Millions have taken tests and millions more will as prices fall furtherSlide4
The Plummeting Cost of SequencingSlide5
Lower Cost -> Higher DemandSlide6
A Conversation with Sunil B
Sunil
Bopardikar
: VP of Engineering at my former company
Long informal philosophical chat in 7/2013 after award ceremony
Discussion Topic: Whence
exceptional
talent?
Our conclusion: mostly due to random genetic fluctuations, globally omnipresent, randomly distributed, awaiting accidental discovery
Sunil’s
Q:“Have
you taken the 23andme test?”Slide7
Computer Science
A Happy Coincidence: My choice of Profession
Three Pillars of CS: Data, Data Structures, and Algorithms
CS is all about extracting, gathering and cleaning up data, then figuring out how it all interrelates (pun intended), and finally developing methods to extract inferences
This “mystery” was tailor-made for a CS wonkSlide8
How To Find
YOUR
Biological Parents
A Step-by-step GuideSlide9
Essential Concepts
Consanguinity aka “Match Percentage”
The Most Recent Common Ancestor (MRCA)
Half Relations
Haplogroups
The “
Records Horizon”
The Process of Elimination
The
Numbers
Game (as in “Law of Large”)Slide10
Essential Skills and Resources
Family Tree Construction
Finding (and Dealing with) Living Relatives
Knowing where to find Key Information
Handling RoadblocksSlide11
Consanguinity
Consanguinity: The percentage of VERY slowly changing genetic markers that two people have in common (about 930K SNP’s out of 3.2B base pairs)
International Society of Genetic Genealogy (ISOGG) Chart – the source of all knowledge!
Determines possible / probable blood relations
Used to identify the MRCA
: “Most Recent Common Ancestor”
NB: Adoptees are often
half
-
relations (also caused by subsequent marriages)Slide12
Divide Percentages
(in
red
) by 2 for
HALF RELATIONSSlide13
%
Shared
cM
(
Centi
Morgans
)
Relationship
100%
6800
Identical twins (monozygotic twins)
50%
3400
Parent/child
50%
2550
Full siblings
25%
1700
Grandparent/grandchild, aunt-or-uncle/niece-or-nephew
, half-siblings
23.4375%
1593.75
Double first cousins
12.50%
850
Great-grandparent/great-grandchild, first cousins, great-uncle or aunt/great-nephew or niece
, half-uncle or aunt/half-nephew or niece
6.25%
425
First cousins once removed, half first cousins, great-great-aunt/uncle,
half great-aunt/uncle
6.25%
425
Double second cousins
3.13%
212.5
Second cousins, first cousins twice removed
, half first cousin once removed, half great-great-aunt/uncle
1.56%
106.25
Second cousins once removed, half second cousins, first cousin three times removed
, half first cousin twice removed
0.78%
53.13
Third cousins, second cousins twice removedSlide14
Finding the MRCA
The success of any search for biological parents hinges on the correct identification of the Most Recent Common Ancestor (MRCA) you share with a person whose lineage is already known (or reasonably discoverable).
Basic Concept: Discovering where two family trees converge (in which specific ancestor)
Good news: for most adoptees (
half
relations), MRCA’s are one step CLOSER than they usually are for
full
relations
NB: For
non
-adoptees, the “MRCA” is a
coupleSlide15
Critical Question: How Far Back?
Once you’ve identified a match, the critical question you need to answer is: How far back must you go in
their
family tree to find your common ancestor?
This is important because of the “Records Horizon” constraint.
To
answer
this
question:
Estimate
the MRCA’s birth year
As a general rule, it’s very difficult to find records prior to an ancestor’s immigration
Spellings can change, foreign records are usually not digitized (or searchable)Slide16
From Theory to Practice
A Worked ExampleSlide17
Case Background
Cohen, born in 1930, is adopted and wishes to find his biological parents
Liebowitz
is a 3% “genetic match” with him according to 23andMe
Liebowitz
is 24 years younger than Cohen
Questions:
What is their
probable
blood relation?
How far back must the
Liebowitz
family tree be traced to find their Common Ancestor?Slide18
Finding the Relationship
Step 1
: Since Cohen is one generation OLDER than
Liebowitz
, and since they share 3% of their genetic markers, it may
seem
that we need to look for “3%” on the ISOGG chart
Step 2
: Since C & L are almost certainly HALF relations, any matching percentage on the chart must be divided by 2! So we actually need to search for “6%” (or thereabouts)
Step 3
: Assigning Cohen to the “self” bubble on the chart, we scan the next row down (one generation younger) to find
Liebowitz
’ 6% figureSlide19
Finding the Common Ancestor
Step 4
: The only possible explanation
given the match percentage (and relative ages) is
that
Liebowitz
is Cohen’s
half
first
cousin
once removed.
Step 5
: Now that we know how C & L are related, we need to determine how far back to map out the
Liebowitz
family tree.
Preliminary Answer
: The common ancestor is THREE generations older than
Leibowitz
and was one of her great grandparents (and one of Cohen’s biological grandparents)Slide20
The “MRCA” Birth Year
The Key
Question
:
Approximately when
was this common ancestor
born
?
Answer: assuming 20 – 30 years per generation, this person would have been born between
3
x 20 and
3
x
30, or
60 to 90 years before
Liebowitz
(or 40 to 60
years before
Cohen)Slide21
Do Records go back that far?
Since Cohen was born in 1930, the common ancestor would have been born sometime between and 1870 and 1890.
Can you find
searchable
records for them that identify
all
of their children (one of whom is Cohen’s parent)?
If so, identify all of their descendants and see which one(s) are “candidate biological parents” based on ages, cities of residence and
your
birth year and city
If not, the information needed to identify the common ancestor lies beyond the “Records Horizon”Slide22
Review
Based on a match percentage, we determined the likely
relation
using the ISOGG
chart
From this we determined the probable common ancestor
Given how many generations older that common ancestor is than our match, we determine if it’s even possible to find the requisite records identify
all
of our match’s ancestors of that generation (family tree level
)Slide23
Review
We try to rule out as many of these ancestors as possible
(
eg
ones
who died in youth,
etc
)
We then generate family trees
downward
for each of the remaining candidate common ancestors to find our biological
parent
filtering by times and places of residence during adulthood
Observation
: For each generation further back we have to go, the number of candidate common ancestors DOUBLES!
Sneaky Move
: If the match
knows
through which parent we are related (sometimes known), we can eliminate half the tree we need to trace!Slide24
The “General Algorithm”
Take genetic tests with
as many services as possible
Designate your results as “public”
If money is tight, chose services in descending order of database size (23andme,
ancestryDNA
)
Have
adoptee
take the tests (finding matches using their children is more difficult)
Check match results at least monthly.Slide25
General Algorithm (2 of 3)
Considering the “Records Horizon” problem, Select a match percentage
“
action threshold”
Suggestion: Only send “contact invitations” to matches greater than 2.5% or 5%
Be a
S
queaky (but pleasant) Wheel with the invitations
Once contact is established, build rapport and seek to obtain as much of the “Essential Information” as you canSlide26
General Algorithm (3 of 3)
Essential Information:
Names of parents and grandparents
Years of birth and death
City of their residence when they reached sexual maturity
City of birth, marriage and death.
Use the steps outlined in the “Worked Example” to determine the common ancestor (
eg
grandparent)
(
Adoptees
) Map
all of
their
descendants, ruling out as many as possible. One of the remaining descendants is your biological
parent
(Adoptees) Repeat
with as many matches as needed until you have identified both biological parents
Slide27
Tools, Pitfalls, and ResourcesSlide28
Haplogroups (Adoptees)
An essential tool for determining
which
parent you share with somebody else
Maternal and Paternal “letter groups” designating gene clusters shared by people originating from a specific geographical region
MHG (Maternal
Haplogroup
) passed on the X
chromosome from mother to child
PHG passed on the Y (sorry ladies
) from father to son onlySlide29
Haplogroups (cont’d)
All women along
a matrilineal
line share the
same MHG. They pass their MHG to offspring.
All men along
a
patrilineal
line share the same
PHG. They pass their PHG only to
male
offspring.
Women have no PHG, only an MHG
Two males sharing the same father (or paternal grandfather) have the same PHG
Any two people sharing the same mother (or maternal grandmother) have the same MHG
Negative cases can
exclude
possible relationshipsSlide30
Potential Roadblocks
Difficult
to find records prior to
emigration due to:
Mangled
spellings in passenger manifests
“Americanized” names (
Calogero
-> Charlie
)
Records are in foreign languages
Records abroad not likely to be digitized or online
Families whose members have been estranged for many years
(Adoptees) Relatives
who simply refuse to talkSlide31
Census Problems
Census takers often misspelled “tricky” foreign names, so searches fail
Immigrants lied to census takers about about when they immigrated, their naturalization status or their age
Immigrants may have
avoided
census takers altogether
Pre-1900 US
Census Records
are
very
sketchySlide32
Statistical Ambiguity
Relation
AVERAGE Match
Possible Range
1st Cousin
12.50%
7.31% - 13.8%
1st Cousin once removed
6.25%
3.30%
- 8.51%
2nd Cousin
3.13%
2.85% - 5.04%
2nd Cousin once removed
1.50%
0.57% - 2.54%
3rd Cousin
0.78%
0.30%
-
2.00%
4th Cousin
0.20%
0.07% -
0.50%
Problem: What relationship does a 4% match have with you? There are
TWO
answers! Things get fuzzy when ranges overlap.
Source:
https://customercare.23andme.com/hc/en-us/articles/202907170-Average-percent-DNA-shared-between-relativesSlide33
Differing Generational Cycles
The average years between generations can vary by
branch
of the family tree.
As the number of generations back to the common ancestor grows, the more ambiguous people’s
“
generation count” becomes.
Example: Two
people of the
exact
same age today can
actually be
one generation
apart
if one person’s branch averages 20 years per generation and the other’s averages 30 years
(over a 60 year period)Slide34
Pointers
Tree building: Accept the fact that you must subscribe to
ancestry.com
and become highly proficient in its use (or hire someone who is)
To build
a Family
Tree,
derive relationships
from Census
data
and other people’s public trees
!
(Adoptees) Find
“Search Angels” –
eg
Priscilla Sharp
Extract family relations from newspaper birth and marriage announcements, and obituaries (the hands-down BEST source of all)Slide35
Still More Pointers
Obtain Death Certificates to learn
names of parents (
eg
maiden names) and birth dates
Resist
the urge to spam distant
(low match) relations indiscriminately
out of
desperation
Prepare
to endure
Endless Discouragements:
Contact invitation response
rates are
very
low.
Responses
are often long
-delayed
Respondents may
question your motives
People
will say your
odds
of finding a biological relative are
minuscule
(and they are correct
!)Slide36
Avoid “Combinatorial Explosion”
The only way to combat these problems (for non-adoptees) is to trace both back family trees until you find the MRCA(s)
For each
generation further back you must go to find the
MRCA, the number of people you need to consider (trace) grows
exponentially
Conclusion:
Avoid
longshots
.
Trying to track down very low match percentages can drive you nuts.Slide37
Key Sources of Information
Genetic Testing
Sites
AncestryDNA.com
(
Mandatory
)
23andme.com (
Mandatory
)
ftDNA.com
?
Gedmatch.com
? (Optional)
Federal and State Censuses
Genealogy
Websites
Ancestry.com
(
Mandatory
)
Familysearch.org
(Free!)Slide38
Key Sources of Information
Newspapers (digitized
archives searchable online)
Obituaries
The
Motherlode
Marriage Announcements
Birth
Announcements
Digitized
newspaper Archives (
eg
fultonhistory.com
)
Search
Angels
Priscilla Sharp
Local Genealogical Researchers (library gnomes)
City, County and State Vital
Records
Birth, Marriage and Death records
Adoption AgenciesSlide39
Key Sources of Information
“People Search” Sites
Intellius.com
Radaris.com
Obituary Search Sites / Google obit searches
Adoption
GroupsSlide40
A “Real Life” Case:
Walkthrough
of the Weiss Case
(2014 – 2015)Slide41
Mother’s Side
Based on my conversation with Sunil, I take the 23andme test and buy another for my father in 12/2013
I introduce my father to Priscilla Sharp, an “Adoption Search Angel”, and she and I then urged him to request a copy of his (heavily redacted
)
adoption record from the State of NY
First Clue: In
2/
2014 I learn on 23andMe.com that Melanie
Ott
shares 5.81% (
ie
~6.25%) of her genetic markers with me and is of my
generationSlide42
The Match that Started EverythingSlide43
Pieces Fall into Place
I
send
Melanie
Ott
an
invitation to connect
on 2/14/14
She
does not answer
until
12/17/14
(
!)
I immediately tell my father about my discovery
He notes he has a 12.4% match with Melanie suggesting we are on the right trail, so he contacts her
By
process of elimination, per the ISOGG table, the only possible explanation that fits the facts is that
she is
my
half
1
st
cousin (not 2
nd
cousin as the site claimed)
Therefore we share ONE grandparent who is also my father’s
parent
.Slide44
23andMe - OverviewSlide45
Parallel Efforts
On 12/19/14 Melanie
provides the names and descriptions of her grandparents
which my
father
then forwards to
Priscilla Sharp, a
“Search
Angel
” (
truly
worthy of the title)
Priscilla notes that
Nathalia
Baker (nee
Gratz
) is
Hungarian
matching the “Hungarian Jew”
described in
the
redacted (“non-identifying”) adoption report from NYSlide46
Seeking Certainty
Although I respected the strong circumstantial case Priscilla made, I wanted
definitive
proof before claiming anyone was a blood relative, so I resolved to find at least one of Natalie’s surviving children to take the 23andme test
Problem: Due
to
“family issues”, Melanie has
no idea where any of them lives (!!)
Her father
refuses to
tell her on
religious
grounds (!!!
)Slide47
AFW, Private Investigator pro tem
Based on census records (
ancestry.com
), I learn that Melanie’s father (Richard Baker) has three siblings: Howard, David and Carol
Huge Problem: “Baker” is a
terrible
name to look for in a nationwide search!
I conclude that it’s impossible to find them based on name alone.
Nobody knows Carol’s
married
nameSlide48
The Rest of the Story
Priscilla
Sharp SA, also
told me about a massive online
searchable archive
of Buffalo newspapers
I
spent days searching
it and
finally found
the
married
name of Carol Baker (Roeder)
in her wedding announcement from the early 60’s
Using this
very
uncommon
name, I
located her
in
Florida
using
intellius.com
Melanie contacted
her aunt Carol to
get the current addresses of all of the other
Baker
children
(Melanie’s uncles
)Slide49
Mystery Solved
I decided that getting one of her
sons
to take the test would pin things down beyond any doubt (since my father and he should
share
a
MHG but
not
their PHGs)
Carol told us that Howard had died, but that David and Richard were also living in FL.
Richard wanted nothing to do with genetic
tests
David took the test, and his results solved the case: he shares 25% of his markers with my father thereby establishing their “half siblinghood”
David’s MHG
matched
my fathers, but his PHG did not
proving
that their common parent was his mother.Slide50
Confirmation Of Shared MaternitySlide51
Father’s Side
In 12/15, I suddenly learned that Nancy R shares
12.5%
of her genetic markers with
me (!
)
and is about one generation older.
Only
plausible explanation of
this high a percentage (
per ISOGG): she is my half-
aunt and therefore my father’s half-sister
Since we know who my father’s mother is (and she is not Nancy’s mother), the shared parent must be her
father
On the site, Nancy posted a
tiny
3-person public family tree
naming
her father
Slide52
Father’s Side
Census data, along with a slew of other records, put him (Vincent
C)
in Buffalo from 1907 - 1968
I undertook
a massive
research
project on
and on Christmas Eve
emailed
a complete dossier on him (including pictures) to my father and siblings announcing that I had finally cracked the case.
I asked my father to take a
AncestryDNA
test to prove this
theory by measuring his match with Nancy
He did,
and the results corroborated
the contention that they were half siblings.Slide53
AncestryDNA - OverviewSlide54
AncestryDNA - DetailSlide55
EpilogueSlide56
“Estimated Relationships”
The “Estimated relationships” shown on genetic matching sites
overlook
the
possibility of half relations, yet just about
all
adoptee relations are half relations!
The “Estimated relationships” these sites suggest are therefore
highly
misleading for adoptees
Example: My father and Melanie
Ott
share 12.5%, the exact percentage of “full” first cousins. Obviously impossible given their age difference.
Example: Nancy R and I share 12.5%, usually implying first
cousinhood
: WRONG! Nancy is a generation older than me and is my half-aunt.Slide57
Adoptees: Walking on Eggshells
Suggesting to a complete stranger that you may be an unknown close relative can be off-putting
It may provoke suspicion, defensiveness, religious concerns,
etc
Consider what you are doing: Asking a stranger to accept (and face) the fact that one of their erstwhile revered ancestors “messed around”
Many do NOT want to “speak ill” of the dead
Others will “See no point” in including you in the family (or feel it does more harm than good)Slide58
Why there is Hope
People, especially those of a scientific bent, are curious about their genetic lineage, hereditary proclivities
Others, who are genealogically inclined, want to find distant relatives
Others are curious about, or want to contribute to gene mapping research
As time passes, an increasingly large percentage of the population will have taken these tests
Social Mores have changed: Stigma formerly attached to “illegitimacy” is almost completely goneSlide59
Why there is Hope (Continued)
The 1950 Census data will be released in 2017
More and more genealogical data is being digitized every
day around the world
All it takes is ONE (good match)
In spite of the sheer
improbability
of it all, we pulled it off, so you can too! It’s just a “numbers game”Slide60
Resources for Further Study
ISOGG, Interpreting match percentages:
http://www.isogg.org/wiki/Autosomal_DNA_statistics
https://dl.dropboxusercontent.com/u/21841126/DNA.pptx
http://www.genealogyjunkie.net/miscellaneous-
notes.html
Search Angels:
http://reunion.adoption.com/adoption-records/search-angels.html
http://priscillasharp.blogspot.com/p/search-angel.html
From
Reeva
:
Steve Morse’s Ellis
Island
Record Search Site:
http
://stevemorse.org
/
JRI-Poland database
:
http
://jri-poland.org/
jriplweb.htm
Polish
Newspaper Searching:
http
://jri-poland.org/
monitor.htm
Polish Books
of Residents:
http://jri-poland.org/
bor.htmSlide61
Q & A ?