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GeneDcGenealogy
• TypesofDNA• TesDngCompanies
• DNAand“tradiDonal”GenealogySites• OtherOnlineUDliDes• Experience/PiQalls
WhydowestudyDNA?
• Health– Exome,subsetofgenome,thatisusedasan“instrucDonset”byourbody.
• (Ancient)History– Understandinghumandevelopment,migraDon
• Genealogy– Helpovercomelackofpaperrecords,generallyseveralgeneraDonsback
• AdopDon– Helpovercomelackofpaperrecords,generallyduringrecentgeneraDons
TypesofDNA• Humanshave23chromosomesplussome
mitochondrialDNA• AutosomalDNA
– 22ChromosomesrecombineeverygeneraDon(*asdoXXchromosomepairinfemales)
• Y-Chromosome(Y-DNA)– Onlypresentinmales(XY),notfemales(XX)– Passesfromfather-to-son(~60Mbp)
• MitochondrialDNA(mtDNA)– Passesfrommother-to-child(~68kbp)
• WelookatrecombinaDonofAutosomalDNAandX-DNAvs.MutaDonsofY-andmtDNA.
mt-andy-DNA
mt-DNA• ManyAshkenaziJewsshare
oneof4mt-DNAHaplogroups,somaynotbeofmuchvalue– Ihave130matchesatgd=0,i.e.
perfectmatches,andhaven’tbeenabletofigureoutanyofthem!
• HVR1,HVR2,FullSequence
• Withonly~68kbp,mutatesmuchslowerthany-DNA
Y-DNA• STRsvs.SNPs
– ShortTandemRepeats(STRs)
– SingleNucleoDdePairs(SNPs)
• Goodfor“ancient”roots– Manybranchesapproaching
themiddleages
– Somebranchesareclosinginonpapertrails
– Alsosomeverysparsebranches
AutosomalDNA
• Human’shave23pairsofChromosomes,22Autosomalanda23rdGender-Specificpair
• Females(XX)thePAIRlookslikean“X”,Males(XY)thePAIRlookslikea“Y”
XX XY
HumanKaryotype
Sex-DeterminingGenes
SimpleFamilyUnit
MGM MGF PGM PGF
Mother Father
Target Sibling
Other Other
Aunt by MarriageUncle
First Cousin
SharedAutosomalDNA
ROHonChild One-to-OneonParents
HomozygositydoesnotidenDfyallareaswhereparentsarerelated,onlywherethatrelaDonshipresultedin
twosetsofthesamesegmentbeingpassedtothechild
RunsofHomozygosityLimitsinResoluDon
RecombinaDon
ThisshowstherecombinaDonover2generaDons(4grandparents/1grandchild)
RecombinaDondoesnotoccurevenlyacrossbasepairs!A100cMblockwilllikelyseearecombinaDonbetweeneverygeneraDon.
StartLocaDon EndLocaDon MBP cM SNPs19,285,288 31,497,529 12.2 26.7 2,60731,411,657 53,380,675 22.0 23.3 3,96852,958,888 106,353,025 53.4 76.0 10,19619,285,288 86,587,790 67.3 84.6 12,87186,570,921 106,353,025 19.8 40.7 3,793
12.2+20+53.4=87.667.3+19.8=87.1
26.7+23.3+76=126.084.6+40.7=125.3
ACloserLookatSiblings
2673.7cMSharedover44MatchingSegments
AStudyof5Siblings:ROH&TriangulaDonSets
HerearetheROHandOne-to-One
Comparisonsforasetof5siblings.
AStudyof5Siblings:OrderedByChromosome
Thisviewhasbeenreorganizedtolookatasingle
chromosomeataDme.
WeseeacombinaDonofno-match,half-match,andfull
matchesbetweenthesiblings.
JewishGenealogy&DNA• HistoricalContext
– CommonFounderEvents
• Endogamy
– Shidduch/Yichus– ReligiousSegregaDon
MigraDonMaps
mt-andY-DNAmigraDonhavebeenusedtostudytheevoluDonoflanguagesandmyths!
ItalsohasbeenusedtosupporttheaccountsoftheJewishDiaspora!
Y-DNA&Cohen/Levite
• Judaismisconferredbasedonmatrilinealdescent.• TribalaffiliaDoncomesfromthe“father”,butwhat
makessomeoneafather?– WeknowthatadopDonofanunrelated
individualconfersneitherreligionnortribalaffiliaDon
– WeknowthatsomeonecanlosetheirtribalaffiliaDon,forexamplebymarryingoutsidethereligion
• WeseeevidenceoftribalaffiliaDon“appearing”anddisappearingin“well-documented”rabbicallines,suchastheKalonymosfamily.
...forwhenRabbiKalonymusdied,hissonRabbiSamuelhe-Ḥasidwasonlyaboy,sohegave(transmi>ed)ittoRabbiEleazarhe-ḤazzanofSpeyer,andwhenhe,RabbiSamuelhe-Ḥasid,grewup,hereceived[thesecrets]fromhim,aswasorderedbyRabbiKalonymustheElder...
...AndRabbiEleazartheGreatwasastudentofRabbiSimeontheGreat.ForRabbiIsaac,thefatherofRabbiSimeontheGreat,andRabbiJoshua,thegrandfatherofRabbiEleazartheGreat,werebrothers.ThisiswhyRabbiSimeonwaslikeafathertohim,forwhenRabbiIsaacdiedhissonRabbiEleazartheGreatwasjustasmallboy,andhegrewupinhishouseandhetaughthimtheTorah,Andhewas[with]RabbiGershom,Me'orha-Golah....
Guetlin’sLineage:• Guetlin(1328–1417)andBaruchben
MeirZurich(1319–1382)• Smoe(Samuel)benBaruch(1295–
1385)• BenditBaruchbenJuda(1269–1335)• JehudabenJitzchakKalman“Juedlin”
KalonymosKohen(1248–1328)• JitzchakJerachmielKalman“Bendiue”
KalonymosKohen(1225–1309)• EleasarKalonymos(1190–1266)hups://en.wikipedia.org/wiki/Kalonymos_family
hups://www.jewishvirtuallibrary.org/jsource/judaica/ejud_0002_0011_0_10655.html
Endogamy
MGM MGF PGM PGF
Mother Father
Target Sibling
Aunt Uncle
Double First
Cousin
Double First
Cousin
MGM MGF PGM PGF
Father
Target Sibling
Mother Step-Father
Half-Sibling
Half-Sibling
MGM MGF
Mother
PGM
siblings
first cousins
PGF
Father
SiblingTarget
TwoBrothersMarryTwoSisters BrotherMarriesWidow
MarriagebetweenFirstCousins
Chr Start Location
End Location cM SNPs
1 9399368 14998286 12.0 1023 2 79485855 88445107 7.6 1213 3 30157379 37042420 7.5 1312 3 37065278 63518385 24.3 4563 4 56703884 69104740 9.0 1675 4 69117497 100695083 28.2 4834 7 671099 5993514 9.0 1047 8 24733022 29970271 8.4 1246 9 36587 7371520 17.5 2397 9 27736785 71852509 14.1 2397 9 78744333 84626318 7.9 1143 11 646845 5156251 11.5 1040 11 5204607 21969179 28.7 4211 20 8446519 18241874 19.2 2559
RunsofHomozygosityChildofFirstCousins
AshkenaziEndogamy
OccasionallyIwillgetane-mailfromsomeoneclaimingtohavea“strong”relaDonshipwithmydaughter.
AcommonproblemisthattheconnecDonwithherisstrongerthanthelinkthroughanyoneofhergrandparents!
Kit Target Target PGM
Target PGF
Target PGF
Target MGM Match
Target 2105.5 1517.4 1638.9 1957.5 101.5 Target PGM 2105.5 60.7 53.2 20.8 59.9 Target PGF 1517.4 60.7 63.5 47.4 73.9 Target MGM 1638.9 53.2 63.5 40.9 24.4 Target MGF 1957.5 20.8 47.4 40.9 46.8 Match 101.5 59.9 73.9 24.4 46.8
VisualofIBC+IBD
NoPcethematchonchromosome22isarPficiallyincreasedbasedonparPalmatch,soitis
parPallyIBCandparPallyIBD!
Chr Start Location End Location Centimorgans (cM) SNPs
1 18,056,011 37,475,919 26.4 2,133
2 10,385,274 16,660,695 12.6 816
2 72,209,703 78,183,536 7.7 571
9 116,323,053 121,671,236 7.4 721
14 89,698,387 94,837,133 10.3 805
19 6,688,063 12,824,143 12.9 679
19 35,498,005 40,521,353 9.8 549
22 25,741,710 31,621,742 8.8 743
Notethisonlyaddsupto96.0cM,not101.5cM,thisiswhyitisimportanttodo1-on-1matches!
TesDngCompanies• J-Screen(notgenealogy,butimportant)
• 23-and-Me
• Ancestry• Family-TreeDNA
• OtherTesDngOpDons
J-Screen
• AlthoughnotgenealogyinthetradiDonalsense,theAshkenaziJewishPopulaDonishithardbyalargenumberofgeneDcdiseases
• ThisistheoneofthemostcomprehensivetestofgeneDcdiseasesrelevanttotheAshkenaziJewishPopulaDon
• Ifyou,orsomeoneinyourfamily,isconsideringhavingchildren,itwouldbeagoodideatolookintothistest!
23andMe
• CantestforbothHealthReportsandGenealogyOnly(atareducedcost).
• TestcoversdifferentSNPsthanAncestry/yDNA–theyaretailoredmorearoundHealthReports
• GivesyouhaplotypesesDmatesforY-andmt-DNA(rough,notfine-detail)
• ThisisthecompanyIstartedwith.
AncestryDNA
• OverallweakestuDliDesforworkingwithDNA.
• DetectsifdirectancestorsarecommonwithDNAmatches(DNAtree-hints)
• TestcoverstheroughlysameasyDNA.*
• DoesnotgiveyouhaplotypesesDmatesforY-ormt-DNA.
*Thismayhavechangedwiththemostrecenttests.
Family-TreeDNA(yDNA)
• Shouldnote–thisisalsothetesDngcompanyforNaDonalGenographicandGeni/MyHeritage.
• ExtensiveY-DNAandmtDNAtesDngopDonsinaddiDontoautosomaltesDng.
• AutosomaltestdoesnotprovideinformaDononY-ormt-DNAhaplogroup! Iwouldstronglyrecommend
joiningagrouptobeuerunderstandyDNAresults!
yDNA(conDnued)
FamilyFinder–filterdowntoCloseand
Immediatewhenlookingatthelist!
DependingonhowuniqueyourmtDNAresultsare,usingtheHaplotypemaybemoreusefulthatlookingattheresults!
OtherTesDngOpDons
• WeGene–relaDvelynew,heavierfocusontheChinesemarket,claimstoimport23&me&Ancestry
• GeneDConcept&Genos–mostlyhealthfocused
• Many“small”opDonsthatdon’thavelargedatabasesforcomparison/uDlitysupport
• FullGenomes–offersreallyhighresoluDonforexpertusers
• ySeq–orderingsingleSNPsontheY-chromosome
DNA&“TradiDonal”GenealogySites• FamilyTreeOriented
– Geni– WikiTree
• TreeplusHistoricalRecordsOriented– Ancestry– MyHeritage
geni.com(WorldTree)
• PartnerofyDNA.• “Propogates”Y-andmt-
DNAresults
• SDllnewtoDNA–rightnowmost“matchemails”haven’tbeenuseful.
• BestsupportofmulDplelanguage/namevariants.
WikiTree
• NotaffiliatedwithanyDNAtesDngcompanies,listsmulDpleopDons.
• SupportsshowingwhoelseinthetreemightsharedifferenttypesofDNA.
Ancestry
• LowdegreeofintegraDon• DNAMarkers
– Manual
– Date(tested)– LocaDon(companythatdidthetesPng)
• NoconceptofhaplotypeorpropagaDonofresults• Showsupas“event”ontheindividual’sDmeline
MyHeritage
• Parentcompanyforgeni.com
• “Personal”familytreesites([email protected])
• Partnerwith23andMe(familytreeprovider)
• PartnerwithyDNA(DNAtestreseller/whitelabel)
OtherOnlineUDliDes• GEDmatch
• Dna.land• AdvandedUDliDes*
– yFull(post-processBigY)
GEDMatch
• ROH=Areyourparentsrelated?
• One-to-Onevs.One-to-Many
– One-to-OneismoreaccuratesoifyoufindamatchonOne-to-Many,besuretodoaOne-to-Onetoverify!
Haplogroup Autosomal X-DNA
Kit Nbr Type List Select Sex Mt Y Details Total cM
largest cM
Gen Details Total cM
largest cM
Name Email
T704359 F2 L M A 3583.4 281.5 1.0 X 0 0 Keith Alan Rothschild [email protected]
A873380 F2 L U A 3583.4 281.5 1.0 X 0 0 Keith Alan Rothschild [email protected]
M107304 V4 L M K2a2a1 J2a1b* A 3550.7 214.5 1.0 X 0 0 *KAR [email protected]
Tier1(Premium)
Experience/PiQalls• AshkenaziEndogamy
• STRMutaDons
• AlignmentErrors
• Whattodoasabeginner...
SearchingforAnswers
• KeithandRandyareknown4thcousinswithaGD=1onyDNAtestwithRandybeingclosertobasegroup
• Coledoesn’tknowwhohisbiologicalfatheris,motherisknownandnotJewish
• Theory:Cole’sfatherisadirectmaledescendentofKeithandRandy’scommonmaleancestor,onthesame“branch”asKeith
cM Keith Cole Randy
Keith 66.3 66.3
Cole 66.3 50.3
Randy 66.3 50.3
STRs Keith Cole Randy
Keith 1 1
Cole 1 2
Randy 1 2
GeneDcDistance(Y-DNA) SharedAutosomalDNA
STRMutaDons
SomeDmesSTRmutaDonscanbemisleading,whiletheyaregoodatbroad-strokes,creaDngaphylogeny
fromSNPsismoreaccurate!
OriginallywethoughttheDYS385bmutaDon(15->16)mighthaveoccurredayertheDYS576mutaDon(18->17),butbydoingtheBigYwewereabletobuilda
moreaccuratetreebasedonSNPS!ThetheoryfromthepreviousslidewasprovenFALSE.
PaulRandyKeithCole
AlignmentErrors
“WithregardstothemutaDon(s)youbroughtforth,Itshardtosay.ResultsinyourgroupseemmonophyleDcandinformaDve.Thiswouldseemlikeatleastsomethingisreal,beitthemutaDonshownoranothermutaDonelsewherethatiscausingamisalignment.However,Iwasabletofindseveralotherkitswiththissamesignature.Theycomefromyourgroup,fromanotherJline(M47),E,R,I,NandO.”-MichaelSager(Privatee-mailexchange)
SomeDmesthatgreatdiscoveryisn’twhatyouthink–thisiswhyitisimportanttocollaborate!
ReachingouttoMatches
• MakesuretoprovideMOREinformaDonthanyouareaskingyourmatchtoprovide.– Itis“OK”tokeeptheidenDtyofkitssomewhatanonymous,butanythingyou
sharewithsomeoneelsemaywindupsomewhereontheweb...– Haveathreshold,askotherswhattheirthresholdsareandrespectthem!
• MinimumSingleSegmentinnon-ROHregionof20cMformetoiniDatecontact• MinimumSingleSegmentinnon-ROHregionof15cManddecentamountof
informaDonsharedformetoacDvelyengagewithsomeonewhoreachesouttome.• Haveapublicallyavailabletreeforreview
– www.wikitree.com(FreeOpDon)– www.geni.com(MostPopularOpDon)
• Loadyourdataontomatchsites– www.gedmatch.com(BestOpDon)– www.geni.comandwww.myheritage.com– DNA.land
• Makesuretolinkkitstopeople• Understandpeoplemayreachouttoyoufordifferentreasons(adopDon/NPEis
verydifferentthanGenealogy).
GoodResources
ThesesiteshavegoodcollecDonsofresources:
• InternaDonalSocietyofGeneDcGenealogists(isogg.org)
– hup://isogg.org/wiki/Beginner%27_guides_to_geneDc_genealogy• DNALectures–WhoDoYouThinkYouAre?(YouTubeChannel)
– hups://www.youtube.com/channel/UC7HQSiSkiy7ujlkgQER1FYw
– (ifthatdoesn’twork,leaveoffthe+dna)
