Scientists have identified a new culprit that may explain what causes the remaining risk of autism: rare inherited variants in regions of non-coding DNA.
Weekend Reads, week 16
Weekend Reads, week 16Worth reading this week: human cloning, ninja polymers fighting off superbugs, and genetics research failing most of the world's population.
Newly Discovered Variants Contribute to Inherited Autism Risk
Newly Discovered Variants Contribute to Inherited Autism RiskScientists have identified a new culprit that may explain what causes the remaining risk of autism: rare inherited variants in regions of non-coding DNA.
'Cell Free' CRISPR Could Improve Cancer Diagnostics
'Cell Free' CRISPR Could Improve Cancer DiagnosticsResearchers have been developing CRISPR gene editing as a potential therapeutic tool for years, but now they have turned their attention to using it in cancer diagnostics.
PRECISE: Unlocking Genomic Data to Transcend All Medical Disciplines
PRECISE: Unlocking Genomic Data to Transcend All Medical DisciplinesResearchers announce a long-term prospective study that has the potential to help physicians and researchers unlock genomic data.
Genomics and Genome Editing in the NHS
Genomics and Genome Editing in the NHSThe Science and Technology Committee in the UK has released a report detailing the role and success of genomics and gene editing within the NHS.
Researchers have been developing CRISPR gene editing as a potential therapeutic tool for years, but now they have turned their attention to using it in cancer diagnostics.
Researchers announce a long-term prospective study that has the potential to help physicians and researchers unlock genomic data.
The Science and Technology Committee in the UK has released a report detailing the role and success of genomics and gene editing within the NHS.
The Chan Zuckerberg Initiative announced Thursday that it has committed $15 million to fund a series of one-year research projects that will develop tools and datasets in support of the Human Cell Atlas.
Thermo Fisher Scientific has launched the Oncomine Childhood Cancer Research Assay, a next-generation sequencing panel developed in collaboration with Children’s Hospital Los Angeles.
The Mayo Clinic’s David Smith, talks about science fiction writer, Nancy Kress, whom he thinks is not only a great storyteller, but is also a genius in how she demonstrates how genetics can alter society within her novels.
There is a disconnect between scientists and the public when it comes to genomics. What is the public’s understanding of genomics and why is this important?
Following on from our feature last week, that discussed the ‘origin of life’, we sat down with George Church, a project supporter, to find hear his thoughts.
The Short Read
Kat Arney is one of the “Top 10 Brits who make science sexy”, according to BBC America. Need we say more?
“How Can We Anticipate and Respond to Technologies and Information That is Rapidly Changing?” – Josephine Johnston
Josephine Johnston is an expert on the ethical, legal and policy implications of biomedical technologies, particularly as used in human reproduction, psychiatry, genetics, and neuroscience.
“I Would Like to See Widespread Reimbursement of Clinical Genomic Testing as Well as Screening” – Gavin Stone
Gavin Stone is an electronics engineer who joined Edico Genome in 2013 to lead corporate development and marketing for the DRAGEN™ Bio-IT Processor, the world’s first next-generation sequencing bioinformatics chip to massively speed up genomic medicine.
Magazines and Educational Guides
Free download: This guide gives you a broader and deeper understanding than the previous edition, to help you understand what considerations you need to make when designing a computational genomics workflow or platform.
In this issue of the magazine, we talk all things ACMG, and speak to some of the most prolific figures in the industry.
Free download: This guide is designed to introduce you to how genomics is being integrated into the clinic, what goes into using a patient’s DNA to reach a diagnosis, and how this information can be communicated to primary care physicians.
The Code, Part 3: It’s now easier than ever to peer into your own genetic code. But are all of the new companies out there offering you information about yourself that you can believe?
The Code, Part 2: Does the ability to more easily change the blueprint of life mean we’re on the path to repairing the broken bits in our genetic inheritance? Or have we tried this before and failed?
The Code, Part 1: The race to sequence the human genome was also billed as a race to end disease. So what happened?
To fully benefit from the vast quantities of data from TCGA, tools for easy data visualisation and analysis must be developed for use of the non-computational scientist. Our panel of experts discuss TCGA data and the tools needed to make sense of it.
Comparison of Single Nucleotide Variants in Sequencing Data Produced by Illumina and Oxford Nanopore Technologies.
Come hear from David Grieg, Bioinformatician at Public Health England to learn more about the application of the MinION for the surveillance of Shiga toxin-producing Escherichia coli O157:H7.
Our panel of experts come together to discuss the benefits and drawbacks on the use of saliva DNA in genetic studies and how it’s currently being used to diminish biases in our databases and uncovering the role of epigenetics in psychiatric disorders.
Around the Web
Repositive, has successfully concluded the pilot phase of its data-sharing platform for PDX cancer models and is now extending the scope of the platform to include a wider range of translational cancer models.
Karius has developed a next-generation sequencing test for microbial cell-free DNA that provides clinicians with a comprehensive test capable of identifying more than 1,250 pathogens directly from blood.
Cofactor Genomics, the developer of advanced RNA analysis tools, has announced that it has entered into an agreement with the National Cancer Institute, to demonstrate the clinical utility of its immune-profiling assay, Cofactor Paragon.
Worth reading this week: human cloning, ninja polymers fighting off superbugs, and genetics research failing most of the world’s population.
Some are exciting (Bill Gates on gene editing and George Church on how to live forever), some are informative (lab mice might be too clean, questioning drug pricing and freeing health data). You can read one, or you can read all five. That’s up to you!
Introducing our new webinar series, The Genome Spot. Each month we’ll be picking the brains of some of the leading researchers, to uncover some of the key movements, challenges and solutions in the field.