evaluation of multiple allele probabilities at a single locus for ungenotyped members of complex...

20
8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 1/20 Kvmaumteio ic Fuatepak Maakak Xri`m`eaeteks mt m Reogak Aibus cir [ogkoitypkj Fkf`krs ic Bifpakx Xkjegrkks Grkgir Girnmob [oevkrsety ic Anu`anmom! @eitkbdoebma Cmbuaty! Moefma Rbekobk Jkpmrtfkot Mppaekj Rtmtestebs Pe`oi! 08td Rkptkf`kr 08=8

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Page 1: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 1/20

Kvmaumteio ic Fuatepak Maakak Xri`m`eaeteks mt m

Reogak Aibus cir [ogkoitypkj Fkf`krs ic Bifpakx Xkjegrkks

Grkgir Girnmob

[oevkrsety ic Anu`anmom! @eitkbdoebma Cmbuaty! Moefma Rbekobk Jkpmrtfkot

Mppaekj RtmtestebsPe`oi! 08td Rkptkf`kr 08=8

Page 2: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 2/20

Eotrijubteio

Jkvkaipfkot ic fiakbuamr gkoktebs akjti tdk m`uojmot siurbk ic gkoitypkeocirfmteio

Diwkvkr> fmssevk gkoitypeog steaa kxpkosevk sifk eojevejumas oit $ykt% gkoitypkj bioffebteog gkoitypks mfiog rkamtevks / / /

MEF> Eockr eojevejumas― gkoitypk crif gkoitypks ic rkamtevks9

Page 3: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 3/20

Fitevmteog mppaebmteio & XrX $XroX% gkok eo sdkkp Gkok XrX mkbts jkvkaipfkot ic sbrmpek $fmj biw aelk jeskmsk

eo sdkkp% eo bmsk ic ‑eockbteio‖

=2td bdrifisifk! piayfirpdesfs mt skvkrma gkok piseteios

$bijios%< fist crkqukot mrk> =23td! =;:td! # =7=st>M=23P =;:P =7= ? 

MPP 

Fuatepak maakaks> MPP ! MD] ! MPD ! MP]! SP] ! / / /

Fmoy gkoitypks! /k/g/! ; maakaks ‒? =; gkoitypks

@rkkjkrs sdiuaj skakbt cir MPP  maakak---

Page 4: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 4/20

Gkoitypk eockrkobk & sefpak kxmfpak

Eockr eojevejumas― gkoitypk crif gkoitypks ic rkamtevks9

M$=%)M$0% M$0%)M$0%

M$9%)M$9%

XrM$=%)M$=%

6 8

XrM$=%)M$0%

6 =)0

XrM$0%)M$0%

6 =)0Xr

M$0%)M$0%

6 8/88

Page 5: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 5/20

Gkoitypk eockrkobk & ykt moitdkr kxmfpak

Eockr eojevejumas― gkoitypk crif gkoitypks ic rkamtevks9

m= m0

m2 m:

m; m3

m7 m4 m5

m=8

g 69

--

-

-

Page 6: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 6/20

Gkoitypk eockrkobk & fktdijs

=/ @rutk cirbk9 l o! 2=8 6 ;5! 8:5 >$

0/ Xkkaeog $6 vmrem`ak kaefeomteio%

Kastio # Rtkwmrt $=57=% cir trkk aelk pkjegrkks mpprixefmteios cir aiipkj pkjegrkks

‒? etkrmtevk pkkaeog $6 aiipy `kaekc pripmgmteio%

2/ Fmrliv bdmeo Fiotk Bmrai $tkrre`ak fexeog! efprmbtebma circrkqukot usk%

:/ Mpprixefmteios wetd aeokmr fijkas ‒? maakak eockrkobk

:/= cmst cir amrgk jmtmskts:/0 mvmeam`ak sictwmrk

Page 7: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 7/20

Maakak eockrkobk wetd aeokmr fktdijs

Xr M$=%)M$=% 6 8Xr

M$=%)M$0%

6 =):

Xr

M$0%)M$0%

6 2):

Xr

M$=%

6 Xr

M$=%)M$=%

,Xr$M$=%)M$0%%

06 =)4

Xr

M$0%

6 Xr

M$0%)M$0%

,

Xr$M$=%)M$0%%0

6 7)4

Pkgrksseio io maakak eojebmtir vmrem`ak$s% y e  6 =)0 $E e != , E e !0%

FbXkkl kt ma/ $088:% & `msk pipuamteio $`% cir `emaakaeb gkoks

y 6 =` , k Gkogakr kt ma/ $0887% & `msk pipuamteio $`% moj eojevejuma

jkvemteios $j% cir `emaakaeb gkoksy 6 =` , ^j , k

Page 8: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 8/20

Maakak eockrkobk wetd aeokmr fktdijs

` `

`

Page 9: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 9/20

Kxtkoseio cir fuatepak maakaks‑Xdkoitypk‖

Gkoitypk y$=%

y$0%

y$2%

M$=%)M$=% =!8 8!8 8!8

M$=%)M$0% 8!; 8!; 8!8

M$0%)M$2% 8!8 8!; 8!;

Rtmbl i`skrvm`aks> y 6

y$=%Z 

!

y$0%Z 

! / / / !

y$t∐=%Z Z 

Jkok> T= 6 Et ∐= ⊗ =o moj ^^ 6 Et ∐= ⊗ ^$l %

y 6 T=` , ^^j , kK  $y% 6 T=`

Smr $k% 6 X⊗ Eo

Smr $j% 6 X⊗ M $=∐ %

X 6 jemg $`%∐ ``Z 

Page 10: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 10/20

Fexkj fijka kqumteios

Rystkf cir t ∐ = maakaks

Et ∐= ⊗

=Z 

oP∐==o =Z 

oP∐=^

^Z P∐==o ^Z P∐=^ , M∐=

 

j

6

=Z 

oP∐=y

^Z P∐=y

Rystkf cir tdk l &td maakak

=Z 

o =o =Z 

o ^$l %

^$l %Z  =o

^$l %Z  ^$l % , M∐=

=∐

$l %j$l % 6 =

o y$l %

^Z y$l % Rkt krrir rmtk $% ti sifk sfmaa vmauk! smy 8/8=&8/=8

‒? degd dkretm`eaety d0

6 =∐ ! smy 8/58&8/55

Page 11: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 11/20

Mppaebmteio Zkxka sdkkp eo Raivkoemo sdkkp `rkkjeog prigrmffk

`msk ffibl efpirtkj crif Oktdkramojs eo =548― rkpkmtkj efpirts ic rmfs kvkry ckw ykmrs

`kcirk $iaj pipuamteio% moj mctkr $okw pipuamteio% streogkotskakbteio io XrX gkok eo Oktdkramojs‒? tdes pribkss wms fijkaakj wetd twi gkokteb griups! e/k/!skpmrmtk `msk pipuamteio maakak crkqukobeks

;;; moefmas eo tdk pkjegrkk 52 moefmas crif rkbkot gkokrmteios gkoitypkj cir XrX gkok

Page 12: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 12/20

Page 13: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 13/20

@msk pipuamteio maakak crkqukoby

kstefmtks

MaakakFktdij MPP  MD] MPD   MP] SP] 

Biuoteog 8!;07 8!8:4 8!=0: 8!032 8!824

@A[K= 8!;:: 8!8;2 8!8;4 8!28; 8!8:8

@A[K0 ‑iaj‖ 8!2;: 8!87= 8!848 8!:23 8!8;5

@A[K0 ‑okw‖ 8!558 8!885 8!884 &8!880 &8!883

=fijka wetdiut gkokteb griups0

fijka wetd gkokteb griups $‑iaj‖ moj ‑okw‖ pipuamteio%

Page 14: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

8/8/2019 Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

http://slidepdf.com/reader/full/evaluation-of-multiple-allele-probabilities-at-a-single-locus-for-ungenotyped 14/20

Zrkojs cir MPP  maakak `y fktdij

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=54; =558 =55; 0888 088;

   8 /   8

   8 /   0

   8 /   :

   8 /   3

   8 /   4

   = /   8

Ukmr ic `ertd

   M   P   P

  m   a   a  k   a  k   c  r  k  q  u  k  o  b  y

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=54; =558 =55; 0888 088;

   8 /   8

   8 /   0

   8 /   :

   8 /   3

   8 /   4

   = /   8

Ukmr ic `ertd

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=54; =558 =55; 0888 088;

   8 /   8

   8 /   0

   8 /   :

   8 /   3

   8 /   4

   = /   8

Ukmr ic `ertd

Xkkaeog AF AF,GG

Page 15: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

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Biobauseios

Aeokmr fijkas kom`ak nieot $mpprixefmtevk-% eockrkobk ic 

eojevejuma maakak pri`m`eaeteks moj `msk pipuamteio maakak crkqukobeks

eo bmsk ic 

amrgk pipuamteios! fuatepak maakas! jekrkot iregeos moj gkoitypk moj)ir pkjegrkk krrirs/

Page 16: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

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Moy quksteios-

Page 17: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

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M`strmbt

Jkvkaipfkot ic fiakbuamr gkoktebs akj ti tdk m`uojmot siurbk ic gkoitypk eocirfmteio/ Diwkvkr! tdkrk mrk ictko sifk eojevejumastdmt mrk oit $ykt% gkoitypkj ir tdker gkoitypk es eo bioffebt wetd tdkgkoitypk ic rkamtevks/ Eo subd bmsks tdk kvmaumteio ic gkoitypkpri`m`eaeteks `mskj io tdk gkoitypks ic rkamtevks bmo `k pkrcirfkj

useog tdk si bmaakj pkkaeog fktdijs/ Diwkvkr! stmojmrj pkkaeogfktdijs bmo ioay `k uskj wetd rkamtevkay sefpak pkjegrkks/ Cirbifpakx pkjegrkks tdk mpprixefmtk fktdijs bmo `k uskj/ Dkrk subdm fktdij es prkskotkj tdmt kfpaiys m aeokmr fexkj fijka wdebd

biosejkrs fuatepak maakak aibe! gkoitypk moj)ir pkjegrkk krrirs!uoloiwo maakak crkqukoby eo m ciuojeog pipuamteio! moj pkjegrkks ic prmbtebmaay uoaefetkj sezk/ Mo mppaebmteio ic tdes fktdij es sdiwo cirtdk XrX gkok eo sdkkp eo Raivkoem/

Page 18: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

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Kteiaigy ic sbrmpek eo sdkkp

=/ 0/

2/ :/

$ %

Page 19: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

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Gkoitypk eockrkobk & fijka $gkoktebs%

` `

`

p $ge |`% ∖p $ge |`%

ge |gc  $e %! gf$e %

`∐

` m s k p i p u a m t e i o m a a k a k c r k q /  

" D m r j y & W k e o ` k r g "  

p $ge |`% 6

` $=%` $=% ` $=%` $0% / / /

` $0%` $=% ` $0%` $0%

//// / /

" F k o j k a "  

ge |gc  $e %! gf$e %

6 / / /

)

Page 20: Evaluation of Multiple Allele Probabilities at a Single Locus for Ungenotyped Members of Complex Pedigrees - Talk

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/ / / , krrirs)pkoktrmobk

` `

`

p $ge |ye ! `! % ∖p $ye |ge ! % p $ge |`%p $ye |ge ! % p 

ge |gc  $e %! gf$e %

y∐

i ` s k r v k j g k o i t y p k  ←

" p d k o i t y p k "  

∐ k r r i r r m t k  

X k o k t r m o b k c u o b t e i o  

ye  6 M$9%)M$9%|ge !

6 =p 

ye  6 M$=%)M$=%|ge !

6

=∐

)b 

/ / /)b  )b ///

/ / /

b  6 t $t ,=%0

∐ =