sectie genoom diagnostiek 12 laboratorium specialisten, 75 … · 2017. 4. 21. · sectie genoom...
TRANSCRIPT
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Sectie Genoom Diagnostiek
12 laboratorium specialisten, 75 analisten
>20,000 genetics tests
Karyotypering
SNP & Oligo Arrays
FISH
Sequentie analyse
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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DNA
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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DNA
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiW6cbAzvrPAhVG1hoKHbAPA-kQjRwIBw&url=http%3A%2F%2Fapbio4dummies.blogspot.com%2F2012%2F08%2Feukaryote-transcription-vs-prokaryote.html&psig=AFQjCNEDeDH8FhrhrSwe4nIqCKNj06-LvQ&ust=1477644871403233
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Aantal genen per hartspierziekte
P vd Zwaag, 2016
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LMNA/C
MYH7
TNNI3
(PKP2)
2005 2012
CSRP3 DES
MYBPC3 MYH7
LMNA/C TNNI3
TNNT2 PLN
TPM1 (exon6B) KBTBD13
MYH7 PKP2
DSC2 DSG2
DSP JUP
TMEM43
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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DNA
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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http://www.allesoverdna.nl/woordenboek/dna-sequencen.html
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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DCM:
van Spaendonck (2012) Eur J Heart Fail 15:376-84
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Screening Kandidaat Gen(en)
Next Generation Sequencing
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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PA vd Zwaag, 2016
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Fun facts:
• TTN heeft 363 exonen
• TTN heeft 107 973 coderende nucleotiden (680x PLN)
• Het grootste exon is 17 402 nucleotides
• RYR2 is 14 904 nucleotides (95x PLN)
Fun facts:
• PLN heeft 1 exon
• PLN heeft 158 coderende nucleotiden
• Het grootste exon is 158 nucleotiden
TTN > 10-20% DCM
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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12 patiënten 1 run 50-200 genen
12 cm
Gerichte (panel analyse): 55/60 genen
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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DNA
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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DNA voorbereiding
DNA
fragmenten
1 2 3 7 8 9 4 5 6
T G CT A C G A T …
Sequentie analyse
Single molecule array
Clusters genereren
Basen bepalen
C G A A
G
G
T A
C
G
C C T G
C
A T A
T
5’
5’ 3’
C
C
C
T
T
G
G
G
G
T
A
A
Plaatjes maken
DNA volgordes bepalen:
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Ziekteverwekkende Variant vinden
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwjlzKT9wvjPAhUCtxoKHdkqBJ4QjRwIBw&url=http%3A%2F%2Fwhere-is-waldo-wally.deviantart.com%2F&psig=AFQjCNGJWgcB15zv34DkA2cv3CfmpG0pSA&ust=1477573010964194http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwjntpLFw_jPAhVL2RoKHf8eDtQQjRwIBw&url=http%3A%2F%2Fwaldo.wikia.com%2Fwiki%2FThe_Wonder_Book&psig=AFQjCNHkAQRGHgFLuGTT8-mWcYOveXiUzA&ust=1477573223656442
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Ziekteverwekkende Variant vinden
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwjlzKT9wvjPAhUCtxoKHdkqBJ4QjRwIBw&url=http%3A%2F%2Fwhere-is-waldo-wally.deviantart.com%2F&psig=AFQjCNGJWgcB15zv34DkA2cv3CfmpG0pSA&ust=1477573010964194http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwjntpLFw_jPAhVL2RoKHf8eDtQQjRwIBw&url=http%3A%2F%2Fwaldo.wikia.com%2Fwiki%2FThe_Wonder_Book&psig=AFQjCNHkAQRGHgFLuGTT8-mWcYOveXiUzA&ust=1477573223656442http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiFm5vpwvjPAhUGtRoKHYv5BV0QjRwIBw&url=http%3A%2F%2Fimgur.com%2Fgallery%2Fb8btr&psig=AFQjCNGJWgcB15zv34DkA2cv3CfmpG0pSA&ust=1477573010964194
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http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwjlzKT9wvjPAhUCtxoKHdkqBJ4QjRwIBw&url=http%3A%2F%2Fwhere-is-waldo-wally.deviantart.com%2F&psig=AFQjCNGJWgcB15zv34DkA2cv3CfmpG0pSA&ust=1477573010964194http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiFm5vpwvjPAhUGtRoKHYv5BV0QjRwIBw&url=http%3A%2F%2Fimgur.com%2Fgallery%2Fb8btr&psig=AFQjCNGJWgcB15zv34DkA2cv3CfmpG0pSA&ust=1477573010964194
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Exomen van >60.000 mensen
Controle groepen gebruiken
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Welke mutatie is daadwerkelijk ziekteverwekkend?
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Welke mutatie is daadwerkelijk ziekteverwekkend?
• Pathogeen
• Waarschijnlijk pathogeen
• Onbekende betekenis
• Waarschijnlijk onschuldig
• Onschuldig
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3,
CAV3, CRYAB, CSRP3/MLP, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4,
GATAD1, GLA, JPH2, JUP, LAMA4, LAMP2, LMNA,
MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, MYOZ1, MYOZ2, NEXN, PKP2, PLN, PRKAG2,
PSEN1, PSEN2, RBM20, RYR2, SCN5A, SGCD, TAZ, TBX20,
TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TXNRD2, VCL, ZASP/LDB3
Sinds September 2012 in Routine Diagnostiek: 1150 patiënten 55 genen panel 1020 patiënten 60 genen panel 2170 patiënten totaal
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Gene panel based resequencing
Exome Sequencing
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CRYAB, SRP3/MLP, DES, DMD, DSC2, DSG2, DSP, EMD, GLA, JPH2, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, MYOZ1, MYOZ2, PKP2, PLN, PRKAG2, PSEN1, PSEN2, RBM20, RYR2, SCN5A, SGCD, TAZ, TBX20, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ZASP
Whole Genome Sequencing
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Exoom (WES) vs Whole genome (WGS)
95% van DNA geen/ onbekende functie
3.8% geconserveerd in zoogdieren 1.2% of DNA codeert voor eiwitten
Exoom (alle exonen van een genoom) (>180,000 exons) ..bevat 80% van alle mutaties
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwjlzKT9wvjPAhUCtxoKHdkqBJ4QjRwIBw&url=http%3A%2F%2Fwhere-is-waldo-wally.deviantart.com%2F&psig=AFQjCNGJWgcB15zv34DkA2cv3CfmpG0pSA&ust=1477573010964194http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&ved=0ahUKEwi2vt-axPjPAhXMWxoKHV8pAdkQjRwIBw&url=http%3A%2F%2Fcollider.com%2Fwheres-waldo-movie-live-action%2F&psig=AFQjCNHgWKmCOBRgcBY8z7HnDCx9gLStpA&ust=1477573435727327
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Waarom toch Exoom sequencing?
*Flexibel: geen vast genen set
*Alle genen: grotere kans op diagnose (“exoom openen”)
-> kinderen met cardiomyopathie
*Zelfde test voor alle ziekten
*Nieuwe genen vinden
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Gene panel based resequencing
Exome Sequencing
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CRYAB, SRP3/MLP, DES, DMD, DSC2, DSG2, DSP, EMD, GLA, JPH2, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, MYOZ1, MYOZ2, PKP2, PLN, PRKAG2, PSEN1, PSEN2, RBM20, RYR2, SCN5A, SGCD, TAZ, TBX20, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ZASP
Whole Genome Sequencing
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Waarom genoom sequencing? Sneller Beter Meer informatie Alles beschikbaar
95% van DNA geen/ onbekende functie
3.8% geconserveerd in zoogdieren
1.2% of DNA codeert voor eiwitten
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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HiSeq X Ten Systems
18.000 Genomen Per jaar!
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Panel: meer genen = meer varianten
Klasse Omschrijving
5 Pathogeen >99%
4 Waarsch.
Pathogeen
95-99%
3 Onzeker (VUS,
variant of unknown
significance)
5-95%
2 Waarsch. Niet
pathogeen
0,1-5%
1 Niet pathogeen < 0,1%
Puch et al. Genetics in
Med. 2014
Ongeveer 50% heeft een variant
waarvan de betekenis niet duidelijk is
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Varianten beter begrijpen:
• Data delen
• Data “cureren”
• RNA sequencen
• Functie testen: CRISP CAS e.a.
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
-
Varianten beter begrijpen:
• Data delen
• Data “cureren”
• RNA sequencen
• Functie testen: CRISP CAS e.a.
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Gen panel gebaseerde analyses:
Groningen
Utrecht
Amsterdam (AMC)
Rotterdam
Maastricht 5 Centers: Dennis Dooijes (UMCU) Ronald Lekanne dit Deprez (AMC) Marjon Slegtenhorst (EMC) Arthur van de Wijngaard (MUMC) Jan Jongbloed (UMCG)
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Exomen van >60.000 mensen
Varianten beter begrijpen:
• Data delen
• Data “cureren”
• RNA sequencen
• Functie testen: CRISP CAS e.a.
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
-
Varianten beter begrijpen:
• Data delen
• Data “cureren”
• RNA sequencen
• Functie testen: CRISP CAS e.a.
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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DNA
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiW6cbAzvrPAhVG1hoKHbAPA-kQjRwIBw&url=http%3A%2F%2Fapbio4dummies.blogspot.com%2F2012%2F08%2Feukaryote-transcription-vs-prokaryote.html&psig=AFQjCNEDeDH8FhrhrSwe4nIqCKNj06-LvQ&ust=1477644871403233
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Varianten beter begrijpen:
• Data delen
• Data “cureren”
• RNA sequencen
• Functie testen: CRISP CAS e.a.
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwj-9de42v3PAhWDDBoKHUYmC_4QjRwIBw&url=http%3A%2F%2Fsynbio.arnoschrauwers.nl%2Ftag%2Fcas9%2F&psig=AFQjCNFoBRU41FBkYBlBsiAmBGwbn2cZlA&ust=1477751223917432http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Gene panel based resequencing
Exome Sequencing
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CRYAB, SRP3/MLP, DES, DMD, DSC2, DSG2, DSP, EMD, GLA, JPH2, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, MYOZ1, MYOZ2, PKP2, PLN, PRKAG2, PSEN1, PSEN2, RBM20, RYR2, SCN5A, SGCD, TAZ, TBX20, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ZASP
Whole Genome Sequencing
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308
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Vragen?
http://www.google.nl/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiY2oXw3tnPAhUCWhoKHU3LDy4QjRwIBw&url=http%3A%2F%2Fwww.larshost.k41.webawere.nl%2Fumcg-begin%2F&psig=AFQjCNHb5YiApz3DoYwCsb1LotObb1uQVg&ust=1476515459409308