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MassGenomics – Medical genomics in the post-genome eraMedical genomics in the post-genome era
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MassGenomics – Medical genomics in the post-genome era | massgenomics.org Reviews
https://massgenomics.org
Medical genomics in the post-genome era
massgenomics.org
MassGenomics – Medical genomics in the post-genome era
http://massgenomics.org/page/2
Medical genomics in the post-genome era. Why Do We Need Sequencing When There’s Exome Chip? March 18, 2016. In my last post, I reviewed a genome-wide association study highlighting the importance of rare genetic variants in complex disease. All variants correlated with replicated GWAS hits for AMD. Protein-altering variants within 500 kb of 22 “index SNPs” uncovered in targeted sequencing of GWAS loci. Virtually all known variants in. Predicted cysteine-altering substitutions in. Sure, you could do fewer...
About Massgenomics
http://massgenomics.org/about
Medical genomics in the post-genome era. I am Dan Koboldt, the author of MassGenomics. Here is some information about the blog and my background. You can follow Massgenomics and be updated when new content is posted in a few different ways:. Which is free and the fastest way to learn when new articles are posted. Use the form to the right. Which provides a feed of all posts on Massgenomics and is syndicated by Feedcat. To see new articles as well as relevant shorter updates. At Washington University in S...
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Medical genomics in the post-genome era. Subscribe for free to Massgenomics. And you’ll be notified the moment that new articles are posted. You can subscribe by e-mail or RSS. Enter your e-mail address in the form to the right to be notified whenever new content is posted. Your information will never be sold or shared with anyone else, and you can unsubscribe at any time. Enter Your E-mail Address Here. Subscribe to our RSS feeds to keep up-to-date with posts and comments. RSS Feed for MassGenomics.
New Insights into Human De Novo Mutations
http://massgenomics.org/2015/07/insights-human-de-novo-mutations.html
Medical genomics in the post-genome era. New Insights into Human De Novo Mutations. July 30, 2015. Mutations — sequence variants that are present in a child but absent from both parents — are an important source of human genetic variation. I think it’s reasonable to say that most of the 3-4 million variants in any individual’s genome arose, once upon a time, as. Mutations and their role in human disease. Mutation rate for humans is 1.2e-08 per generation. Each year adding 1-2 mutations). A recent study in.
Applications of low-cost whole genome sequencing
http://massgenomics.org/2014/12/whole-genome-sequencing-applications.html
Medical genomics in the post-genome era. 6 Applications for Whole Genome Sequencing. December 5, 2014. As I wrote about recently, the transition to large-scale whole genome sequencing will bring many challenges. Let’s set the difficulties aside for now and ask a more interesting question. What kind of scientific endeavors could we undertake with this new capability? Here are a few ideas. 1 Newborn and Pediatric Disease. 2 Drug Trials and Pharmacogenomics. One of the great promises of genomic research is ...
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Omics! Omics!: September 2014
http://omicsomics.blogspot.com/2014_09_01_archive.html
A computational biologists personal views on new technologies and publications on genomics and proteomics and their impact on drug discovery. Tuesday, September 09, 2014. Reanalysis Lays Bare MinION Review's Spectacular Flaws. T and submit it to a journal. Links to this post. Friday, September 05, 2014. Oxford Takes Some Flak, Fires Back. Links to this post. Subscribe to: Posts (Atom). View my complete profile. Reanalysis Lays Bare MinION Reviews Spectacular F. Oxford Takes Some Flak, Fires Back. About a...
Omics! Omics!: February 2014
http://omicsomics.blogspot.com/2014_02_01_archive.html
A computational biologists personal views on new technologies and publications on genomics and proteomics and their impact on drug discovery. Wednesday, February 26, 2014. NGS Saves A Young Life. Links to this post. Monday, February 24, 2014. A Sunset for Draft Genomes? Links to this post. Thursday, February 13, 2014. How will you deal with GRCh38? So, a significant advance, but a bit unpleasant one if you are in the space. You now have several ugly options before you with regard to your prior data m...
Omics! Omics!: June 2015
http://omicsomics.blogspot.com/2015_06_01_archive.html
A computational biologists personal views on new technologies and publications on genomics and proteomics and their impact on drug discovery. Tuesday, June 30, 2015. June 2015: Busting Out All Over with Genomics Technology. 10X Genomics and a pair from Oxford Nanopore. Links to this post. Monday, June 08, 2015. BGI Unveils a Sequencing Factory to Go. When I was in George Churchs lab, he submitted a grant proposal (which, alas, was not funded) for a sequencing factory to generate one megabase. The Ion Tor...
Omics! Omics!: Leaky clinical metagenomics pipelines are a very serious issue
http://omicsomics.blogspot.com/2015/07/leaky-clinical-metagenomics-pipelines.html
A computational biologists personal views on new technologies and publications on genomics and proteomics and their impact on drug discovery. Thursday, July 02, 2015. Leaky clinical metagenomics pipelines are a very serious issue. Update: Some significant issues with the tone of this post are discussed in a follow-up. The informatics methods used both in the case study and the paper in question were published as a separate paper in Genome Research. The other issue uncovered by Salzberg's group is also tr...
Omics! Omics!: June 2015: Busting Out All Over with Genomics Technology
http://omicsomics.blogspot.com/2015/06/june-2015-busting-out-all-over-with.html
A computational biologists personal views on new technologies and publications on genomics and proteomics and their impact on drug discovery. Tuesday, June 30, 2015. June 2015: Busting Out All Over with Genomics Technology. 10X Genomics and a pair from Oxford Nanopore. Mountain for these technologies to summit are very large polyploid genomes. PacBio has a nice write-up on their blog. In case you don't (as I don't) have access to the paper in Nature Genetics. But nothing of real substance. Another hazy e...
ASHG2012: Who does family studies? | Genetic Inference
http://www.genetic-inference.co.uk/blog/2012/11/ashg2012-who-does-family-studies
ASHG2012: Who does family studies? November 8, 2012. The American Society of Human Genetics’ annual meeting. Has now kicked off in San Francisco. The usual terrifyingly large conference center, dizzying collection of stalls and posters as far as the eye can see are all very much in evidence, as is the migrating herds of human geneticists wondering the landscape looking for food in the perpetually busy local restaurants. But it had a very different feel to two years ago. Bigger datasets, fancier methods.
BioJS Conference 3-4 July, Norwich, UK – Preceding the Galaxy Community Conference – Genomes, Web 2.0 and Bioethics
https://manuelcorpas.com/2015/05/15/biojs-conference-3-4-july-norwich-uk-preceding-the-galaxy-community-conference
Genomes, Web 2.0 and Bioethics. BioJS Conference 3-4 July, Norwich, UK – Preceding the Galaxy Community Conference. May 15, 2015. BioJS CONFERENCE 3-4 JULY, NORWICH, UK. Http:/ conf.biojs.net/. A researcher interested in interactive visualisation of massive biological datasets on the web? A developer interested in data visualisation? Interested to understand current industry-based end user needs? It is our pleasure to invite you to join us for the 1st Annual BioJS Conference (BioJS.conf). First BioJS Hac...
Genomes, Web 2.0 and Bioethics – Page 3 – by Manuel Corpas
https://manuelcorpas.com/page/3
Genomes, Web 2.0 and Bioethics. 4 year BBSRC PhD Position Available: start Oct 2015, UK residents only. April 17, 2015. Living figures: reproducing published experiments in situ Speaking about the issues thrown up by ‘Big Data’, The Economist reported in the article Welcome to the Yotta World that, by 2018, there would be a talent gap of 150,000 data-science professionals globally. The problem is particularly acute in high-throughput […]. Galaxy Community Conference 2015 Abstract Submission is Open.
First BioJS Hackathon in Munich 2014 timelapse – Genomes, Web 2.0 and Bioethics
https://manuelcorpas.com/2015/05/12/first-biojs-hackathon-in-munich-2014-timelapse
Genomes, Web 2.0 and Bioethics. First BioJS Hackathon in Munich 2014 timelapse. May 12, 2015. It had escaped my attention until now this video of the BioJS team in Munich in August 2014. As a result of this, BioJS version 2.0 was born. From left to right: Seb Wilzbach, Tim Ruffles, David Dao, Manuel Corpas, Rafael Jimenez, Michiel Helvensteijn and Iris Shih. Click to share on Google (Opens in new window). Click to share on Flattr (Opens in new window). Share on Facebook (Opens in new window). Notify me o...
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See, that’s what the app is perfect for. Wahhhh, I don’t wanna. Your blog is gold. Apr 9th, 2016. Apr 9th, 2016.
MassGenomics – Medical genomics in the post-genome era
Medical genomics in the post-genome era. MassGenomics is Closed, but KidsGenomics is Open. February 28, 2018. Thank you to everyone who sent kind messages after I announced the end of MassGenomics earlier this month. Please rest assured that this website and all of its articles will remain online for the foreseeable future. My new blog about the genomics of rare diseases and pediatric cancer. The format will be similar to MassGenomics, with posts every couple of weeks ( sign up here. February 13, 2018.
MassGenomics | Medical genomics in the post-genome era
Medical genomics in the post-genome era. May 21, 2008. Massgenomics has grown enough to become its own site. Please update your bookmarks and RSS feeds:. Http:/ www.massgenomics.org/. Http:/ www.massgenomics.org/feed. Http:/ www.massgenomics.org/comments/feed. Short Read Aligners: Maq, Eland, and Others. May 14, 2008. Of the different alignment tools by the WashU GC. Short-Read Data Sets at the WashU Genome Center. One of our data sets includes 100 Solexa runs (non-paired) from the genomic DNA. Our group...
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TEACHING GEOGRAPHY
Welcome to the Massachusetts Geography Alliance blog space. This is place where we can exchange ideas about geography teaching and learning. Geography educators are invited to share teaching ideas, quirky map images, and helpful links. Saturday, June 24, 2017. What does this map represent? Only 36 percent put a dot inside the country, with the other 64 percent of answers encompassing a few million square miles of error. In this recent study, as reported by Kevin Quealy. In the New York Times. The Massach...
Massachusetts Geographic Alliance
Generated by HTML5 Slideshow Dreamweaver Extension. Your browser does not support inline frames or is currently configured not to display inline frames. The Massachusetts Geographic Alliance (MGA) is a grassroots organization of hundreds of Massachusetts teachers dedicate to improving geography education in the Commonwealth. It is one of the 50 state geography alliances affiliated with the National Geographic Society. Regional Centers/Programs (click each for flyers):.
MassGeocachers - Dedicated to Geocaching in Massachusetts
Dedicated to Geocaching in Massachusetts. MassGeocachers started in 2009 out of a need in the state of Massachusetts. There is no other state-wide organization in existence. We strive to provide a place where all people involved in or interested in Geocaching can come together. As the sole organizer of MassGeocachers, I have been geocaching for over 9 years. I am centrally located in the town of West Brookfield, MA and hope to some day form branches of MassGeocachers in the East and the West.
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