plagnol-lab.blogspot.com

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About me (and my work). Rare disease genetics- UCL exomes consortium. Friday, 25 November 2016. Cryptic exons and TDP-43 in neurodegenerative diseases. I am delighted to see on BioRxiv.org the publication. From my PhD student Jack Humphrey. Jack works in collaboration between the UCL Genetics Institute and the UCL Institute of Neurology. Jack's work, during the first year of his PhD, has focused on understanding the molecular mechanisms behind devastating neurodegenerative disorders like ALS. To streamli...

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About me (and my work). Rare disease genetics- UCL exomes consortium. Friday, 25 November 2016. Cryptic exons and TDP-43 in neurodegenerative diseases. I am delighted to see on BioRxiv.org the publication. From my PhD student Jack Humphrey. Jack works in collaboration between the UCL Genetics Institute and the UCL Institute of Neurology. Jack's work, during the first year of his PhD, has focused on understanding the molecular mechanisms behind devastating neurodegenerative disorders like ALS. To streamli...

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Plagnol lab's blog | plagnol-lab.blogspot.com Reviews

https://plagnol-lab.blogspot.com

About me (and my work). Rare disease genetics- UCL exomes consortium. Friday, 25 November 2016. Cryptic exons and TDP-43 in neurodegenerative diseases. I am delighted to see on BioRxiv.org the publication. From my PhD student Jack Humphrey. Jack works in collaboration between the UCL Genetics Institute and the UCL Institute of Neurology. Jack's work, during the first year of his PhD, has focused on understanding the molecular mechanisms behind devastating neurodegenerative disorders like ALS. To streamli...

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plagnol-lab.blogspot.com

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Plagnol lab's blog: Cryptic exons and TDP-43 in neurodegenerative diseases

http://plagnol-lab.blogspot.com/2016/11/cryptic-exons-and-tdp-43-in.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Friday, 25 November 2016. Cryptic exons and TDP-43 in neurodegenerative diseases. I am delighted to see on BioRxiv.org the publication. From my PhD student Jack Humphrey. Jack works in collaboration between the UCL Genetics Institute and the UCL Institute of Neurology. Jack's work, during the first year of his PhD, has focused on understanding the molecular mechanisms behind devastating neurodegenerative disorders like ALS.

2

Plagnol lab's blog: Non-invasive pre-natal testing for chromosomal abnormalities: bioinformatics and the UK NHS process

http://plagnol-lab.blogspot.com/2014/07/non-invasive-pre-natal-testing-for.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Wednesday, 9 July 2014. Non-invasive pre-natal testing for chromosomal abnormalities: bioinformatics and the UK NHS process. NIPT signal associated with a fetal micro. Deletion on chromosome 22 causing. Kitty Lo, a postdoctoral researcher in my group at UCL, just published a new. And an associated R package called RAPIDR (. What is non-invasive pre-natal testing (NIPT) and how does it work? NIPT in the UK: the RAPID project. As part of...

3

Plagnol lab's blog: May 2013

http://plagnol-lab.blogspot.com/2013_05_01_archive.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Monday, 20 May 2013. Latest paper: Bayesian test for co-localisation between pairs of genetic association studies using summary statistics. In this latest paper. Just submitted to arXiv, led by PhD student Claudia Giambartolomei) we want to answer the following question: given two genetic association studies both showing some association signal at a locus, how likely is it that the same variant is responsible for both associations?

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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...

5

Plagnol lab's blog: March 2013

http://plagnol-lab.blogspot.com/2013_03_01_archive.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Tuesday, 19 March 2013. 23AndMe replicates a common variant association with chordoma. I am quite excited (and frankly a bit relieved) by the fact that 23AndMe replicated a finding. Which we published last year. In that first study. Which also has a report on the first paper. Why I was worried. Which is well worth a quick read. I am really excited by the possibilities offerred by the 23AndMe. Experimental design. There is really mu...

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plagnol-lab.blogspot.com

Plagnol lab's blog

About me (and my work). Rare disease genetics- UCL exomes consortium. Friday, 25 November 2016. Cryptic exons and TDP-43 in neurodegenerative diseases. I am delighted to see on BioRxiv.org the publication. From my PhD student Jack Humphrey. Jack works in collaboration between the UCL Genetics Institute and the UCL Institute of Neurology. Jack's work, during the first year of his PhD, has focused on understanding the molecular mechanisms behind devastating neurodegenerative disorders like ALS. To streamli...

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