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Rare Genetic Variants in Health and Disease. The UK10K project will enable researchers in the UK and beyond to better understand the link between low-frequency and rare genetic changes, and human disease caused by harmful changes to the proteins the body makes. Wellcome Library, London. Not all genetic changes are harmful or lead to disease, so the project is taking a two-pronged approach to identify rare variants and their effects:. By studying the changes within protein-coding areas of DNA that tell th...

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UK10K - Home page | uk10k.org Reviews
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Rare Genetic Variants in Health and Disease. The UK10K project will enable researchers in the UK and beyond to better understand the link between low-frequency and rare genetic changes, and human disease caused by harmful changes to the proteins the body makes. Wellcome Library, London. Not all genetic changes are harmful or lead to disease, so the project is taking a two-pronged approach to identify rare variants and their effects:. By studying the changes within protein-coding areas of DNA that tell th...
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1 what is uk10k
2 project design
3 goals
4 funding
5 investigators
6 consortium membership
7 study samples
8 ethics
9 data access
10 data and methods
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UK10K - Home page | uk10k.org Reviews

https://uk10k.org

Rare Genetic Variants in Health and Disease. The UK10K project will enable researchers in the UK and beyond to better understand the link between low-frequency and rare genetic changes, and human disease caused by harmful changes to the proteins the body makes. Wellcome Library, London. Not all genetic changes are harmful or lead to disease, so the project is taking a two-pronged approach to identify rare variants and their effects:. By studying the changes within protein-coding areas of DNA that tell th...

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uk10k.org uk10k.org
1

UK10K - Data & Methods

http://www.uk10k.org/data.html

Rare Genetic Variants in Health and Disease. Sites and allele frequencies. For table listing the datasets associated with the flagship UK10K paper available in the EGA. These datasets correspond to the data analysed for the main UK10K paper. Sites and allele frequencies. Page for information about requesting access. The VCF is annotated with rsIDs from dbSNP138, and the following INFO fields:. Variant Recalibration Score from GATK. Allele count in called genotypes in UK10K. Allele count in TWINSUK cohort.

2

UK10K - Consortium membership

http://www.uk10k.org/consortium.html

Rare Genetic Variants in Health and Disease. Research Applicants and Collaborators:. The complete list of researchers. Richard Durbin, WTSI. Dawn Muddyman, WTSI. Nicole Soranzo, Cohorts Co-chair, WTSI. Nic Timpson, Cohorts Co-chair, ALSPAC - Bristol University. Tim Spector, TwinsUK - Kings College London. Brent Richards, McGill University. Aarno Palotie, Neuro Group Co-chair, WTSI. Michael Owen, Neuro Group Co-chair, Cardiff University. Jeff Barrett, WTSI. Daniel Geschwind, UCLA. Karen Kennedy, WTSI.

3

UK10K - UK10K researchers

http://www.uk10k.org/people.html

Rare Genetic Variants in Health and Disease. If you would like to get in contact with the UK10K researchers, please visit our Contact Us. Richard Durbin, Wellcome Trust Sanger Institute. Jeffrey Barrett, Wellcome Trust Sanger Institute. Ines Barroso, Wellcome Trust Sanger Institute. George Davey-Smith, University of Bristol. Ismaa Sadaf Farooqi, University of Cambridge. Matthew Hurles, Wellcome Trust Sanger Institute. Stephen O'Rahilly, University of Cambridge. Tim Spector, King's College London. David S...

4

UK10K - UK10K Goals

http://www.uk10k.org/goals.html

Rare Genetic Variants in Health and Disease. The increasing speed of DNA sequencing and computer processing, coupled with the concomitant fall in cost now allows study to an order of magnitude greater depth than before (down to 0.1% allele frequency). The UK10K project has been created to exploit this opportunity to conduct large-scale genome-wide study of thousands of people's DNA sequences to explore rare variants in different types of disease at this unprecedented level. Both the TwinsUK and ALSPAC co...

5

UK10K - Posters and Abstracts

http://www.uk10k.org/publications.html

Rare Genetic Variants in Health and Disease. Click on the link below to download the author list from the submitted Flagship UK10K paper:. Flagship paper author list. Click on the links below to download author lists for each working group (these have not been updated since 2012):. Entire UK10K Consortium List. Whole-genome sequence-based analysis of thyroid function. Nat Comm. 2015 Mar. 6;6:5681. Role of common and rare variants in SCN10A. Cardiovasc Res. 2015 Feb 17. pii: cvv042. A rare variant in APOC3.

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Plagnol lab's blog: February 2013

http://plagnol-lab.blogspot.com/2013_02_01_archive.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Monday, 11 February 2013. Genetics of cardiomyopathies: it's not easy. Congratulation to Luis Lopes (PhD at the UCL Heart Hospital) who just published his paper ( open access. In the Journal of Medical Genetics) on a high throughput sequencing screen of a cohort of hypertrophic cardiomyopathy. Genetics of inherited cardiac disorders are really complex. The attitude of cardiologists toward genetic diagnosis is changing. My point is that...

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Contributors | Wellcome Trust Sanger Institute Blog

https://sangerinstitute.wordpress.com/contributors

Wellcome Trust Sanger Institute Blog. Our contributing writers to the Wellcome Trust Sanger Institute Blog. Ludmil is currently a PhD student in the Cancer Genome Project where he works under the supervision of Mike Stratton on identifying and understanding the mutational processes that cause cancer. Browen Aken is the Wellcome Trust Sanger Institute Ensembl. When genome assemblies are very fragmented, full length protein-coding genes cannot fit onto short pieces of DNA. With next-generation transcriptom...

rvs.u.hpc.mssm.edu rvs.u.hpc.mssm.edu

RVS — the Reference Variant Store

https://rvs.u.hpc.mssm.edu/about.php

Information provided by RVS. RVS currently contains more than 520 million variants, obtained from these studies:. 1000 Genomes Phases 1 and 3 (1092 and 2535 samples, respectively; WGS). ESP6500 (6503 samples, WES). Scripps Wellderly (534, WGS). UK10K (7320: 4888 WES and 2432 WGS). GERA ( 78,000, genotyping). TCGA (4415, mixed WES and WGS). Mt Sinai BioBank (11,210, genotyping; visible to Mount Sinai users only). And these sample-independent resources and annotation databases:. Information provided by RVS.

crestar-project.eu crestar-project.eu

Crestar

http://www.crestar-project.eu/about-crestar

Focusing on the development of pharmacogenomic biomarkers for schizophrenia. Coordinator and Project Office. Burdens of clozapine therapy. Results from Work Packages. What are the main symptoms? How can schizophrenia be treated? The special case of treatment resistant patients. CRESTAR aims to develop tools to predict. Who will NOT respond to usual antipsychotics, indicating treatment with clozapine as early as possible,. CRESTAR will address the research question by examining. The outcome of CRESTAR wil...

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Contributors | Wellcome Trust Sanger Institute Blog

https://sangerinstitute.blog/contributors

Wellcome Trust Sanger Institute Blog. Our contributing writers to the Wellcome Trust Sanger Institute Blog. Ludmil is currently a PhD student in the Cancer Genome Project where he works under the supervision of Mike Stratton on identifying and understanding the mutational processes that cause cancer. Browen Aken is the Wellcome Trust Sanger Institute Ensembl. When genome assemblies are very fragmented, full length protein-coding genes cannot fit onto short pieces of DNA. With next-generation transcriptom...

cardiovascres.oxfordjournals.org cardiovascres.oxfordjournals.org

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study | Cardiovascular Research

http://cardiovascres.oxfordjournals.org/content/106/3/520

Skip to main content. Volume 106, Issue 3. Pp 520 - 529. Dispatch date of next issue. Forthcoming special issues and calls for papers. Books and custom publishing. European Heart Journal Supplements. European Heart Journal - Cardiovascular Imaging. European Heart Journal - Cardiovascular Pharmacotherapy. European Heart Journal - Quality of Care and Clinical Outcomes. European Heart Journal - Acute Cardiovascular Care. European Journal of Cardiovascular Nursing. European Journal of Heart Failure. Danish N...

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Crestar

http://www.crestar-project.eu/about-crestar/aims-and-methods

Focusing on the development of pharmacogenomic biomarkers for schizophrenia. Coordinator and Project Office. Burdens of clozapine therapy. Results from Work Packages. What are the main symptoms? How can schizophrenia be treated? The special case of treatment resistant patients. CRESTAR aimed at developing tools to predict. Who does NOT respond to usual antipsychotics, indicating treatment with clozapine as early as possible,. CRESTAR addressed the research question by examining. To identify predictive fa...

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Hledání genů pro inteligenci pokračuje

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Soylent: nutriční bastlíři a politika strachu z jídla. Zralé maso chutné maso. Experiment: Někdo to rád hořké. Někdo to rád hořké - průběžné výsledky. Archiv (1871 – dosud). Videa pro budoucí kosmonauty. Archiv (1871 – dosud). Videa pro budoucí kosmonauty. Najlepší ešte neboli vyrobení. Sny o DNA) a pokračuje: V dnešnej dobe už máme zvieratá, ktoré dospievajú niekoľko krát rýchlejšie než divoké zvieratá. Dokážeme postrčiť ich určité vlastnosti takým smerom, ako sa nám to hodí, ale zatiaľ sme nezačali...

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Principles of Protein Structure: May 2014

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Principles of Protein Structure. A blog principally for present, past and future students of Birkbeck College. S Internet-based Principles of Protein Structure. Course, linking the course to current research and other goings-on in the world of structural molecular biology. Wednesday, 7 May 2014. The Many Uses of Bioinformatics. Every year, Birkbeck hosts a lecture by a distinguished scientist to honour the memory of the founder of its Crystallography Department, J.D. Bernal. EBI) at Hinxton near Cambridge.

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UK10K - Home page

Rare Genetic Variants in Health and Disease. The UK10K project will enable researchers in the UK and beyond to better understand the link between low-frequency and rare genetic changes, and human disease caused by harmful changes to the proteins the body makes. Wellcome Library, London. Not all genetic changes are harmful or lead to disease, so the project is taking a two-pronged approach to identify rare variants and their effects:. By studying the changes within protein-coding areas of DNA that tell th...

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