presentation of genomic analysis results with chipdx
TRANSCRIPT
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 1/9
PYFWFCZHZKOC OM NFCOBKG HCHL[WKW YFWVLZW ^KZD GDKPJT
Zdf GdkpJT dobfphnf lkwzw zdf
h}hklhilf jkhncowzkg zfwzw,
hggovcz bhchnfbfcz mfhzvyfw
hcj vplohj/jo~clohj zoolw
Wflfgzkcn h jkhncowzkg bojvlf zhefw {ov zo
phnf jfwgykikcn zdf jf}flopbfcz hcj
mvcgzkoc om zdf zfwz, h phnf zo wvibkz h
pyf}kovwl{ vplohjfj NfcfGdkp pyomklf moy
hchl{wkw, oy h yfwvlz }kf~kcn wfgzkoc#
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 2/9
IFNKC $HCJ BOCKZOY+ HCHL[WKW I[ WKBPL[ VPLOHJKCN HC HMM[BFZYKT #GFL MK LF ZO [OVY HGGOVCZ
Hmzfy zdf vwfy wflfgzw zdf hppyopykhzf NfcfGdkp GFL mklf $ovzpvz myob Hmm{bfzykt NfcfGdkp
Wghccfy+, pyfpyogfwwkcn hcj xvhlkz{ goczyol ifnkcw hvzobhzkghll{#
Zdf vwfy ghc oiwfy}f zdf pyonyfww om zdf hchl{wkw hcj kw cozkmkfj }kh fbhkl ~dfc gobplfzf# Hz
zdkw pokcz zdf pyogfwwfj jhzh ghc if wvibkzzfj zo ocf oy boyf om zdf ozdfy GdkpJT hchl{wkwbojvlfw#
Ocf"glkge NfcfGdkp GFLmklf vplohj#
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 3/9
GOLOY"GOJFJ XVHLKZ[ BOJVLF YFWVLZW ‗ YHPKJ KCZFPYFZHZKOC OM JHZH XVHLKZ[ HWWFWWBFCZW
Yfwvlzw myob zdf GdkpJT Xvhlkz{
Bojvlf hyf pyfwfczfj pykoy zo
jkhncowzkg hchl{wkw hcj zdfc
hnhkc hlocn"wkjf zdf yfwvlzw#
Goloy"gojkcn kw vwfj zo fchilf yhpkj kczfypyfzhzkoc om fhgd xvhlkz{
bfzykg# Nyhpdw om zdf fczkyf nfcobkg pyomklf hyf hlwo h}hklhilf kc h wvi"
wfgzkoc om zdf xvhlkz{ yfpoyz#
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 4/9
GOCMKYBHZKOC OM ZKWWVF Z[PF, BHLKNCHCZ WZHZVW ‗ FCWVYF PYOMKLF BHZGDFW GLKCKGHL YFGOYJW
Zdf Zvboy Oyknkc Bojvlf
jfzfgzw zdf zvboy z{pf
yfpyfwfczfj i{ zdf NfcfGdkp#
Zdkw kcmoybhzkoc ghc if vwfj zo
hwwkwz kc jkhncowkw bfzhwzhzkg oy
pooyl{ jkmmfyfczkhzfj zvboyw, oyhw hc hjjkzkochl xvhlkz{
bfhwvyfbfcz5 k#f# zo fcwvyf zdf
nfcobkg pyomklf bhzgdfw zdf
eco~c glkckghl pyomklf om zdf
phzkfcz#
Moy fhgd zkwwvf"z{pf pyfwfcz kc zdf Zvboy
Oyknkc jhzhihwf, h wfphyhzf 800"nfcf
hlnoykzdb zyhkcfj zo pyfjkgz zdf bhlknchcz
wzhzvw om h wpfgkbfc $zvboy oy coybhl+ kw
kcglvjfj# Zdkw ghc fcwvyf zdhz zdf nfcobkg
pyomklf yfpyfwfczw zdf zvboy om kczfyfwz,
coz zdf wvyyovcjkcn coybhl zkwwvf#
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 5/9
JKWPLH[ OM YH^ HCJ COYBHLKQFJ BYCH ]HLVFW MOY GOBBOC KBBVCODKWZOGDFBKWZY[ BHYEFYW
Kcwpfgz h phcfl om nfcf
ftpyfwwkoc
bfhwvyfbfczw
goyyfwpocjkcn zo h phcfl
om KDG bhyefyw zo
}hlkjhzf zdf nfcobkg
pyomklf bhzgdfw zdf
phzdolon{ ~oyevp#
Kcjk}kjvhl KDG pyoif
bfhwvyfbfczw hyf wdo~c kc
coybhlkqfj"kczfcwkz{ moybhz
hcj hlwo wghlfj zo zdf vppfy
}hlvf om fhgd nfcf, hw
ghlgvlhzfj kc zdf gobplfzf
GdkpJT Zvboy Oyknkc
jhzhihwf#
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 6/9
NFCFGDKP JHWDIOHYJ ‗ ]KF^ HLL VPLOHJW, ZFWZW PFYMOYBFJ HCJ XG JHZH O]FY ZKBF KC OCF PLHGF
Oiwfy}f zyfcjw kc Xvhlkz{ Bojvlf
bfzykg jhzh o}fy zkbf, gobphyf zo
nloihl GdkpJT yhcnfw o}fy zdfwhbf zkbf pfykoj
]kf~ zdf yfwvlz om fhgd xvhlkz{ bfzykg
$phww/~hyckcn/mhkl+ kc zhilf moybhz hcj
yfgocgklf vplohjw }w hchl{wkw yfwvlzw
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 7/9
PYONCOWZKG WKNCHZVYF OVZPVZ ‗ PYONCOWZKG WGOYF, GOCMKJFCGF KCZFYC]HL, YFWVLZ GOCZFTZ
Yfwvlzw myob GdkpJTpyoncowzkg bojvlfw $gvyyfczl{
h}hklhilf moy iyfhwz, lvcn hcj
goloc ghcgfy+ kcglvjf h glfhy
jkwplh{ om zdf pyoncowzkg
kcjft, ;6& gocmkjfcgf
kczfy}hl hcj jkwplh{ om zdf
kcjft kc yflhzkoc zo zdf
zyhkckcn wfykfw om phzkfczw
vwfj zo jf}flop zdf zfwz#
Jfpfcjkcn oc zdf glkckghl wzhnf om zdf
phzkfcz kc xvfwzkoc, zdf vwfy bh{ gvwzobkqf
zdf Ehplhc Bfkfy jkwplh{ hggoyjkcnl{#
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 8/9
J[CHBKG NFCF FTPYFWWKOC —DFHZBHPW‛ 1 GOBPHYKWOC OM NFCOBKG PYOMKLF ZO ZOZHL JHZHIHWF
Vcjfywzhcj zdf yfwvlzw om zdf
bvlzk"nfcf hwwh{ i{ }kf~kcn
zdf goloy"gojfj ftpyfwwkoc
}hlvfw kc yflhzkoc zo
fxvk}hlfcz jhzh myob zdf
phzkfczw vwfj zo jf}flop hcj
}hlkjhzf zdf zfwz#
Kc"lkcf dflp hcj kcmoybhzkoc ~kcjo~w hwwkwz
kc kczfypyfzkcn zdfwf mfhzvyfw, dkndlkndzkcn
zdf bowz kbpoyzhcz hwpfgzw om zdf hchl{wkw#
8/7/2019 Presentation of Genomic Analysis Results With ChipDX
http://slidepdf.com/reader/full/presentation-of-genomic-analysis-results-with-chipdx 9/9
HCCOZHZFJ ZHILF OM KCJK]KJVHL NFCF FTPYFWWKOC BFHWVYFBFCZW MOY FHGD WKNCHZVYF
HIKLKZ[ ZO JKWPLH[ BVLZKPLF NFCOBKG WKNCHZVYFW OY Z^O"NFCF YHZKOW
]kf~ oy ftpoyz zdf nfcf"i{"
nfcf ftpyfwwkoc
bfhwvyfbfczw vwfj zo
gobpvzf zdf jkhncowzkg yfwvlz#
Woyz i{ $yflhzk}f+ dknd/lo~
ftpyfwwkoc lf}fl hcj lkce zo
nfcf mvcgzkoc jhzhihwfw#
Hjjkzkochl nfcobkg wknchzvyfw, wvgd hw
z~o"nfcf yhzkow goyyfwpocjkcn zopyoihiklkz{ om wpfgkmkg nfcf bvzhzkocw,
ghc if yfpyfwfczfj kc fhwkl{"vcjfywzooj
moybhzw