The researchers were able to diagnose 17 patients with short telomere syndrome based on telomere length combined with targeted sequence data.
In Genome Research this week: study of intra-tumor heterogeneity, workflow resources for EPIGEN-Brazil, and more.
Mayo Clinic researchers found that mutations in these genes could be found in nearly 6 percent of patients and argued for germline genetic testing for patients.
The researchers designed a transcriptome sequencing assay that identifies clinically relevant gene fusions in 541 genes.
Metagenomics can help researchers and clinicians uncover sources of infectious disease and discern whether pathogens are resistant to antimicrobials.
The company plans to test both its current technology and explore novel signatures using samples from Mayo's biobank.
In Genome Biology this week: approach to analyze alternative polyadenylation, algorithm to predict transcriptomic structural variations, and more.
With integrated data for thousands of TCGA tumors, teams explored cancer subtypes, searched for prognostic insights, began mapping immune cell interactions, and more.
Researchers saw clinically actionable heart disease mutations in fewer than 5 percent of sudden infant death syndrome cases interrogated by molecular autopsy.
Investigators identified mutation, expression, and methylation differences in colorectal polyps from individuals with or without colorectal cancer.
Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.
Vox wonders whether gene-editing crops will be viewed similarly as genetically modified organisms of if people will give them a try.
In Science this week: research regulation and reporting requirement reform, and more.
With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.