The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you...

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The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine

Transcript of The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you...

Page 1: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

The 100,000 genomes project and youPatrick Chinnery

Institute of Genetic Medicine

Page 2: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.
Page 3: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Gregor Mendel1822-1884

Page 4: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.
Page 5: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Human chromosomes

Page 6: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

23

“Junk” DNA

Page 7: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Year 2000 = $3Billion

Page 8: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.
Page 9: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Gordon E Moore 1965

Page 10: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Rare diseases

Page 11: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

December 2012

• Rare diseases• Infection• Cancer

Page 12: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Newcastle recruitment - December 2014

LondonNewcastleCambridge

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Page 13: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Functional classification of JDW SNPsSNP Type Known SNPs Novel SNPs

Missense 8967 2421

Nonsense 44 5

Synonymous 9121 2261

UTR 18517 7102

Intron 922048 381924

Page 14: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Unexpected results

Ethical hurdles

Page 15: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

Personalised genetic medicine

Page 16: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.
Page 17: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.
Page 18: The 100,000 genomes project and you - Newcastle University · The 100,000 genomes project and you Patrick Chinnery Institute of Genetic Medicine. GregorMendel 1822-1884. Human chromosomes.

100,000 Genomes Poster - Birdshot Uveitis Society · The 100,000 Genomes Project The project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients

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Genetics, Genomics, and the 100,000 Genomes …...Genomics England runs the 100,000 Genomes Project. It also holds sole responsibility for data protection. Oxford NHS Genomic Medicine

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The$100,000$Genomes$Projectand$ Genomics$England$16f0cd41-50a4-474d-81ef-b9d269f8a4… · UK Genomic Medicine Research Data Infrastructure the Farr, Oxford, Cambridge, EBI, Sanger,

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King s Research Portal - King's College London...The United Kingdom’s (UK) 100,000 Genomes Project aims to sequence 100,000 genomes from UK National Health Service (NHS) patients

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The 100,000 Genomes Project Protocol...About this document About this document This document sets out the protocol for the development, delivery, and operation of the 100,000 Genomes

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Bioinformatics for the 100,000 Genomes Projectbioinformaticsbarcelona.eu/media/upload/arxius/GenomicsEngland_112016/... · Outline • Introduction to the UK’s 100,000 genomes project

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The 100,000 Genomes Project€¦ · The 100,000 Genomes Project. Four main aims 15 1. To bring benefit to NHS patients 2. To create an ethical and transparent programme based on consent

The 100,000 Genomes Project€¦ · The 100,000 Genomes Project. Four main aims 15 1. To bring benefit to NHS patients 2. To create an ethical and transparent programme based on consent

The 100,000 Genomes Project - sm · 10/29/2015  · The first human genome sequence 29 October 2015 3 100,000 Genomes at Millennium Prices - Cost $320 trillion 26 th June 2000 - Cost

The 100,000 Genomes Project - sm · 10/29/2015  · The first human genome sequence 29 October 2015 3 100,000 Genomes at Millennium Prices - Cost $320 trillion 26 th June 2000 - Cost

Springer - Analysis of 100,000 human cancer genomes reveals the landscape … · 2017. 8. 29. · RESEARCH Open Access Analysis of 100,000 human cancer genomes reveals the landscape

Springer - Analysis of 100,000 human cancer genomes reveals the landscape … · 2017. 8. 29. · RESEARCH Open Access Analysis of 100,000 human cancer genomes reveals the landscape

The Genomics England 100,000 Genomes Project · Confidential: For Review Only The Genomics England 100,000 Genomes Project Clare Turnbull1-4, Richard Scott1,5, Louise Jones1,6, Ellen

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IDIOMS OF AN ECOLOGICAL SELF By RACHELLE M. CHINNERY ...dtpr.lib.athabascau.ca/.../RachelleChinneryProject.pdf · IDIOMS OF AN ECOLOGICAL SELF By RACHELLE M. CHINNERY-LEGROS Integrated

IDIOMS OF AN ECOLOGICAL SELF By RACHELLE M. CHINNERY ...dtpr.lib.athabascau.ca/.../RachelleChinneryProject.pdf · IDIOMS OF AN ECOLOGICAL SELF By RACHELLE M. CHINNERY-LEGROS Integrated

All-analog Digital Multimeter (DMM) · 2018-05-17 · All-analog Digital Multimeter (DMM) Submitted in partial requirement for the completion of 6.101 Sam Chinnery chinnery@mit.edu

All-analog Digital Multimeter (DMM) · 2018-05-17 · All-analog Digital Multimeter (DMM) Submitted in partial requirement for the completion of 6.101 Sam Chinnery [email protected]

Challenges in implementing genomic medicine: the 100,000 ... · The 100,000 Genomes Project has sought to catalyse the development of a full genomic medicine service through variant

Challenges in implementing genomic medicine: the 100,000 ... · The 100,000 Genomes Project has sought to catalyse the development of a full genomic medicine service through variant

100,000 Genomes Project: Cancer Programme Validating WGS ... · 100,000 Genomes Project: Cancer Programme Validating WGS for clinical use Alona Sosinsky Head of Cancer Analysis, Genomics

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Chinnery and Bai - Levinas and Responsibilitysummit.sfu.ca/system/files/iritems1/13229/Chinnery and Bai - Levinas... · subjectivity, by Derrida, Levinas and others, is actually a

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100,000 Genomes Project and its potential for rare disease research

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Genetics, genomics and the 100,000 genomes project · UK 100,000 Genomes Project •Launched by David Cameron in 2012 •Delivered by Genomics England, a company wholly owned and

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