ST5217 Statistical Methods for Genetic Analysis Instructor: Li Jialiang, S16/07-111, 6516-8932, stalj@nus.edu.

sg Pre-requisite: LSM1102 and ST2132 and ST3236, or Departmental approval Time Place: Tuesday 7pm 10 pm, S16-0307 !nday " #ednesday 2$% & 3 $% or by appointment

!ffice "ours:

Summary: T'is is a le(el 5000 )!u*se !n geneti) data analysis +!)using !n 'u%an and $!$ulati!n geneti)s. T'e e%$'asis ,ill -e in unde*standing t'e *!le !+ statisti)s and data analysis in %!de*n geneti)s *esea*)' and its a$$li)ati!ns. .u%e*i)al and )!%$utati!nal %et'!ds ,ill -e dis)ussed ,it' a$$li)ati!ns t! *eal data sets. T! e/ui$ t'e students ,it' t'e t!!ls t! )!ndu)t geneti) data analysis. 0nly a %ini%u% 1n!,ledge !n -i!l!gy is *e/ui*ed +!* t'is %!dule. T!$i)s in)lude int*!du)ti!n t! geneti)s, se/uen)e data, geneti) e$ide%i!l!gy, *!le !+ geneti) +a)t!*s in 'u%an diseases, and gene e2$*essi!n data analysis. !st -i!statisti)al %et'!ds in t'is a*ea a*e u$dating *a$idly. #e %ainly +!)us !n *ig!*!usly studying a +i2ed $!*ti!n !+ %at'e%ati)al t!!ls t'at a*e al,ays suita-le +!* la*ge s)ale geneti) data. T'e $*i%a*y $'en!ty$e ,e )!nside* in t'is %!dule is t'e li+eti%e data. T'is %!dule is ta*geted at students ,'! a*e inte*ested in Statisti)s and a*e a-le t! %eet t'e $*e-*e/uisites. #equired te$t: Su*(i(al 3nalysis in 8all/797. %ourse com&onents: T'e*e ,ill -e ,ee1ly tut!*ials, t,! $*!je)ts 5in)luding $*!$!sals6, and !ne +inal !$en--!!1 e2a%. 3ssign%ent %ust -e tu*ned in !n ti%e +!* )*edit. T'e t,! $*!je)ts a*e gi(en -el!,: ;*!je)t 1: <!* t'is $*!je)t, )'!!se a *e)ent statisti)al a*ti)le 5$u-lis'ed sin)e 20116 ,'i)' is *elated t! statisti)al %et'!ds in geneti) analysis. T'e %aj!* statisti)al !* $*!-a-ility j!u*nals s'!uld -e used. ;lease t*y t! +ind a $a$e* t'at in(!l(es a t!$i) ,'i)' see%s t! 'a(e signi+i)ant +utu*e *esea*)' $!tential. T! get +ull )*edit, y!u %ust get ad(an)e a$$*!(al +*!% %e +!* t'e $a$e* y!u sele)t. #*ite a 2-3 $age su%%a*y !+ t'e $a$e* 5y!u d! n!t 'a(e t! (e*i+y any %at'e%ati)al +!*%ula6, $aying $a*ti)ula* attenti!n t! t'e statisti)al %et'!ds used and t'e $*a)ti)al issues add*essed. T'e t!tal $!ints $!ssi-le a*e 10. ;*!je)t 2: <!* t'is $*!je)t, )'!!se a *e)ent statisti)al a*ti)le 5$u-lis'ed sin)e 20116 ,'i)' is *elated t! statisti)al %et'!ds in geneti) analysis. =!u %ay use t'e sa%e $a$e* used +!* $*!je)t 1. a1e su*e t'at t'e )'!sen $a$e* )an $*!(ide s!%e in+!*%ati!n a-!ut $!tential *esea*)' $*!je)ts. T! get +ull )*edit, y!u %ust get ad(an)e a$$*!(al +*!% %e +!* t'e $a$e* y!u sele)t i+ it di++e*s edi)ine and 4eneti)s -y J. Li and S. a 520136, 7'a$%an "

+*!% t'e $a$e* used in $*!je)t 1. >denti+y 1-3 $*!%ising $*!-le%s and/!* *esea*)' /uesti!ns ,'i)' )!uld -e !+ inte*est t! t'e statisti)al )!%%unity. #*ite 2-3 $age su%%a*y !+ y!u* +indings and in)lude an e(aluati!n !+ t'e $!tential i%$a)t i+ t'e $*!$!sed *esea*)' ,e*e su))ess+ul. T'e t!tal $!ints $!ssi-le a*e 20. =!u %ay ,ant t! get an ea*ly sta*t !n t'is $a$e* and %eet ,it' %e se(e*al ti%es t! %a1e su*e y!u a*e 'eaded in t'e *ig't di*e)ti!n.

Assessment: - Tut!*ial 510?6 idte*% $*!je)t 510?6 - <inal ;*!je)t 520?6 - <inal @2a% 560?6 %ourse Schedule 'due dates are e$act( to&ics are a&&ro$imate): Aate #ee1 1 5Jan 1B6 T!$i) 9e(ie, !+ Statisti)al )!n)e$ts and int*!du)ti!n t! geneti) e$ide%i!l!gy #ee1 2 5Jan 216 #ee1 3 5Jan 286 #ee1 B 5<e- B6 Standa*d su*(i(al data analysis 5>6 Standa*d su*(i(al data analysis 5>>6 Aiagn!sti) edi)ine 5>6 7' 5 idte*% $*!je)t $*!$!sal #ee1 5 5<e- 116 #ee1 6 5<e- 186 9e)ess #ee1 7 5 a* B6 #ee1 8 5 a* 116 #ee1 9 5 a* 186 #ee1 10 5 a* 256 #ee1 11 53$* 16 #ee1 12 53$* 86 #ee1 13 53$* ;enaliEed @sti%ati!n 0t'e* t!$i)s 9e(ie, and $*esentati!n 7' 6 TC3 <inal S)*eening and 3ss!)iati!n Dnsu$e*(ised Lea*ning 7' 6 a*ginal 7' 6 <inal $*!je)t $*!$!sal ulti(a*iate 3nalysis Cayesian et'!ds 7' B 7' B idte*% $*!je)t Aiagn!sti) edi)ine 5>>6 7' 5 7' B .!n$a*a%et*i) 9eg*essi!n 7' 2 7' 1 " 2 #'e*e t! +ind %ate*ials 7' 1 #'at is due

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$*!je)t

Ae+initi!n !+ *and!% (a*ia-le: #e ,ill use t'e te*% F*and!% (a*ia-leG in t'e statisti)al *at'e* t'an t'e $*!-a-ilisti) senseH t'at is, a *and!% (a*ia-le is a /uantity ,'!se (alues a*e des)*i-ed -y a $*!-a-ility dist*i-uti!n +un)ti!n. 0+ )!u*se, all !+ t'e *esults t! +!ll!, *e%ain (alid ,'en a *and!% (a*ia-le is de+ined in te*%s !+ %easu*e t'e!*y, i.e., as a %easu*a-le +un)ti!n !n a gi(en $*!-a-ility s$a)e. Cut +!* !u* $u*$!ses it su++i)es t! ad!$t t'e des)*i$ti!n !+ #ald 519B76 & Fa (a*ia-le 2 is )alled a *and!% (a*ia-le i+ +!* any gi(en (alue ) a de+inite $*!-a-ility )an -e as)*i-ed t! t'e e(ent t'at 2 ,ill ta1e a (alue less t'an )G and !+ 4neden1! 519626 & Fa *and!% (a*ia-le is a (a*ia-le /uantity ,'!se (alues de$end !n )'an)e and +!* ,'i)' t'e*e e2ists a dist*i-uti!n +un)ti!n.G