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Daniel Swan
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Daniel Swan
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IonTorrent  - 
 
An update on Ion Torrent news from AGBT via Omicsomics
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Daniel Swan
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Meetings/Courses/Tutorials/Workshops  - 
 
For those with an interest in open science & sequencing...
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Daniel Swan
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Software Tools  - 
 
More a resource link than a tool, but a useful aggregation
 
Back in the day, there was one variant database, and only one–dbSNP. Then came HapMap and then 1000Genomes. Now, there are many such resources, each of which can be useful for annotating and filtering variants found in our own data. Here, I just pulled together a few such resources and a little ...
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Daniel Swan
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General Discussion  - 
 
Another great blog post from GoldenHelix on HGVS nomenclature.
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Daniel Swan
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General Discussion  - 
 
An interesting article from Frontiers in Oncology for those with an interest in the regulated clinical applications of NGS technologies:  http://journal.frontiersin.org/Journal/10.3389/fonc.2014.00078/full
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Daniel Swan
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General Discussion  - 
 
An excellent post on the pitfalls associated with variant annotation from Andrew Jesaitis of Golden Helix
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Daniel Swan
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QuickTips  - 
 
Might be worth a read for those with aggressive quality filtering steps in their pipelines
The widespread and rapid adoption of high-throughput sequencing technologies has afforded researchers the opportunity to gain a deep understanding of genome level processes that underlie evolutiona...
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Daniel Swan
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General Discussion  - 
 
A great read for many reasons whether you're a bioinformatician or a biologist
 
The future of bioinformatics and the NGS assay, a lecture transcript by Sean Eddy 
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Daniel Swan
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Software Tools  - 
 
Thoughts from Ewan Birney on the latest samtools release.
 
CRAM goes mainline
Two weeks ago there was the announcement from John Marshall from Sanger for SAMtools 1.0 - one of the two most widely used Next Generation Sequencing ( NGS) variant-calling tools  embedded in hundreds if not thousands of bioinformatics pipelines worldwide ....
Two weeks ago there was the announcement from John Marshall from Sanger for SAMtools 1.0 - one of the two most widely used Next Generation Sequencing (NGS) variant-calling tools embedded in hundreds if not thousands of bioinf...
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IGV still does not support that format right?
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Daniel Swan
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Meetings/Courses/Tutorials/Workshops  - 
 
From the Oxbridge Biotech Roundtable:

Since the completion of the Human Genome Project, the demand for faster and cheaper sequencing methods has increased exponentially, driving the development of next-generation sequencing (NGS). NGS platforms perform massively parallel sequencing, allowing millions of fragments of DNA from a single sample to be sequenced in unison, facilitating an entire genome to be sequenced in less than a day. The desire to reduce sequencing time and cost is in part influenced by an upcoming era of personalised medicine. This event will discuss the future application of NGS to personalised medicine with foresight coming from leaders in the fields.

Three companies paving the way for the application of NGS to personalized medicine are: Oxford Nanopore Technologies Ltd; Illumina; Premaitha Health. Oxford Nanopore Technologies Ltd has made strides towards the development of devices that will allow a pragmatic approach to the diagnostic stages of personalised medicine. MinION™, which utilises nanopores to analyse single molecules such as DNA, is intended to be disposable and cost less than $900, providing accurate health information in timeframes as short as 15 minutes. Illumina, likewise are engaging the power of NGS in clinical diagnostics with devices, such as the MiSeqDx Instrument, which is the first and only FDA-cleared in vitro diagnostic NGS system and is designed with a clinical environment in mind. Premaitha Health employs next generation DNA analysis technology to develop, manufacture and sell molecular diagnostic products intended to have a major beneficial impact on human health.
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Daniel Swan
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Humour/Comics  - 
 
Love variant calling? Love 2048? This may well be the link for you
 
Bwaa-haa-haa! Via +Stephen Turner

RT @genetics_blog: I made a variant-calling-themed 2048 while waiting on HaplotypeCaller http://t.co/naE6bO45oo. There goes your Friday afternoon. #2048game
Join the steps to get to the Nature Genetics paper tile! Careful: this game is extremely addictive!
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Have him in circles
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