genomics

I’ve recently found the NHS Genomics Education programme website, which includes a lot of resources, but the Bitesize genomics videos such as ‘What is genomics?’ and ‘What is Bioinformatics?’ are good accessible introductions. https://www.genomicseducation.hee.nhs.uk/education/...

Groundbreaking project seeks to illuminate the complexities of Parkinson's (msn.com)

Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of unexplained severe fatigue Abstract Background Causative genetic variants cannot yet be found for many disorders with a clear heritable component, including...

I felt like writing about this. In my opinion ME/CFS is probably a label for several different poorly understood illnesses that happen to share some characteristics and which do not yet have their own name. We might call them subtypes of ME/CFS. Then, in a ME/CFS cohort there is probably also a...

https://learngenomics.dev/ Audience is computer scientists, but useful for anyone wanting an overview of this complex topic.

https://www.nejm.org/doi/full/10.1056/NEJMoa2035790 Abstract BACKGROUND The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care...

Abstract Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with...

Full title: Fine mapping of the major histocompatibility complex (MHC) in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) suggests involvement of both HLA class I and class II loci Abstract The etiology of myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is unknown, but...

XMRV and Public Health: The Retroviral Genome Is Not a Suitable Template for Diagnostic PCR, and Its Association with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Appears Unreliable Panelli et al https://www.frontiersin.org/articles/10.3389/fpubh.2017.00108/full

NIH: National Human Genome Research Institute: Researchers discover a new autoinflammatory disease called CRIA syndrome “It was as if lightning had struck three times in the same place,” said Kastner, who led the NHGRI team. “This discovery underscores the tremendous power of combining astute...

National institute of Environmental Health Sciences, Research Triangle Park, NC https://www.training.nih.gov/postdoc_jobs_nih/view/_31/6990/Methods_in_Statistical_Genetics_and_Bioinformatics

OMF: Stanford Genome Technology Center Applies to NIH https://www.omf.ngo/2019/06/24/sgtc-applies-to-nih/ The Stanford Genome Technology Center (SGTC), under the direction of Ronald W. Davis, PhD, has submitted several RO1 grant applications to NIH to continue and scale up several projects...

Wall Street Journal: The Unfulfilled Promise of DNA Testing The article weaves the story of a young sick girl thru it by discussing how genetic testing has resulted in her diagnosis changing over and over and over as the science changes constantly. And how this is happening to other patients...

Background Despite earlier doubts, a string of recent successes indicates that if sample sizes are large enough, it is possible—both in theory and in practice—to identify and replicate genetic associations with common complex diseases. But human genome epidemiology is expensive and, from a...

Abstract only, or it's a poster presentation? https://search.proquest.com/openview/3ecbf2853f437616f4506cf68f104f30/1?pq-origsite=gscholar&cbl=2030046

Ramsay 2018 award recipient https://solvecfs.org/ramsay-2018-meet-dr-liz-worthey/

Public on Jul 23, 2018 https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE111183 eta: It's an article in PLOSone Published: July 23, 2018 https://doi.org/10.1371/journal.pone.0201066 full study here: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201066

A set of very short (one paragraph) descriptions of the various "omics": genomics, epigenomics, transcriptomics, proteomics, metabolomics and microbiomics. There are also brief videos for each. https://www.news-medical.net/amp/health/Multiomics-and-Human-Diseases.aspx?

This is a preprint - made available by the authors on bioRxiv before publication while the paper is still in peer review.

Edited to change the thread title to that of the BBC Radio 4 3-part series introduced by this online article in BBC Health News: http://www.bbc.com/news/health-43674270 Link to the first episode is in the article but is here for easier ref. http://www.bbc.co.uk/programmes/b09yddx5#play I...