SOD
The Origin of Ashkenazi Levites Doron M Behar, MD, PhD
Family Tree DNA, Houston, Texas
Estonian Biocentre and Department of Evolutionary Biology
University of Tartu, Tartu, Estonia
The 11th Genetic Genealogy Conference for Family Tree DNA Group
Administrators November 14-15, 2015
1
Big Y: Where anthropology meets genealogy
2
Jacobs pedigree
3
Levis pedigree4
Around 500600 thousand worldwide
Cohen
NRY Phylogeny 1997NRY Phylogeny 20115
Distribution of Hg R1a1-M17/M198 among Ashkenazi Levites
6
Origin of Ashkenazi LevitesA strong founding event within the
last 2,000 years>50% of contemporary Ashkenazi LeviteClose
relatedness to non-Jewish groupsUnresolved origin
7
Global distribution of Hg R1a1
> 2,000 R1a1 samplesNo good internal structureSTR haplotypes
are not informativeMarker M458 reaches frequencies of 30-70% in
East Europe8
NGS and its claimsApril 2009, Complete Genomics: plan to be able
to sequence one million full genomes per year by 2013June 2009,
Illumina: during the next five years, perhaps markedly sooner, the
price point for full genome sequencing will fall from $48,000 to
under $1,000.August 2009, Pacific Biosciences: will sequence 10,000
full genomes by the end of 2010.August 2009, GE Global Research: is
also now in the race to commercialize full genome sequencing as
they are currently working on creating a service that will deliver
a full genome for $1,000 or less.September 2009, Halcyon Molecular:
will be able to provide full genome sequencing in under 10 minutes
for less than $100 per genome.October 2009, IBM: they were also in
the heated race to provide full genome sequencing for under $1,000,
with their ultimate goal being able to provide their service for
$100 per genome.
Even more claimsMarch 2010, Pacific Biosciences said: their
second-generation machine, which is scheduled for release in 2015,
will be capable of providing a full genome sequence for a person in
just 15 minutes for less than $100.June 2010, Illumina: lowered the
cost of its individual sequencing service to $19,500 from
$48,000.January 2012, Life Technologies: introduced a sequencer to
decode a human genome in one day for $1,000.January 2012, Oxford
Nanopore : come up with a DNA sequencing machine (the MinION) the
size of a USB memory stick which costs $900 and can sequence simple
genomes (but not full human genomes).
SequencingConventionalNext generationSanger based technologyA 30
years old monopoly600-1000 bp per readReaction time - few
hours10,000,000 reactions to sequence the genomeDeveloped in 2005
by 454 Life SciencesA throughput equivalent to 50 Applied
Biosystem's 3730XL capillary sequencers at about one-sixth of the
cost
Data analysis: The NGS bottleneckThe flood of
information:DataDataDataChanges in data typeAccuracyThe reference
dataNot all is in the code
Pipeline for Whole Y analysis
The enrichment processA strategy meant to selectively sequence
the genomics regions of interestHigher coverageCostly
Pipeline for Whole Y analysis
Next Generation sequencing
Reads
Mapping
Next Generation sequencing
Coverage=26
Quality Control per Whole YPre mapping:Total Reads Average Read
Length%GC pre-mapPost mappingMapped ReadsAverage Target
CoverageNumber of known SNPs
REFAGALTAGenotypeHOMdepth60qual_base_calling214maxqual_mapping60maxqual_genotype99max
Quality control per variant
19
Pipeline for Whole Y analysis
How does it look like?Sanger-type sequencingmtDNA
mutationm.7572T>CtRNA-Asp regionCoverage 2x
At the NGS-level:
VCF
Pipeline for Whole Y analysis
FilteringKnown phylogenyY-chromosome regions of intrestFamily
membersGeography
Example analysis
Annotated VCF
Whole Y phylogeny (2015)
28
Applying to the Levite case
29
30
Within Jewish casts31
Meir, Jeff and the Horowitzs32
The Horowitz pedigree
33
Study designA total of Ashkenazi Levites with carefully revised
genealogy (66 samples)
Possibly Yeshaya Horowitz descendants (4 samples)
A methodological screening of FTDNA database for non-Ashkenazi
R1a
Obtaining of informed consent (10 samples)
Big Y and 111 STRs for all samples34
Four Horowitzs claiming to descend from Yeshaya Horovsky
3514501615
R1a Phylogeny36
European branch
Ashkenazi Levites
R1a Phylogeny37
Origin?Horowitz?
38
On the origin
On the Horowitz39
40
Genetic results are concordant with the genealogy
41~1200 ybp~500-625 ybpCoalescence
TartuEstonian BiocentreLauri SaagMonika KarminMari JrveSiiri
RootsiMait MetspaluEne MetspaluRichard
VillemsAcknowledgementsGenealogical peersMeir Garboz GoverJeff
Wexler& all R1as!
Family Tree DNAConnie BormansLuisa Fernanda SanchezBrent
ManningUffaf KahnAnnie GorbetMark ScheelClaudia SturmanMelissa
GroveElliott GreenspanBennett Greenspan
42
