Researchers identified rare, functionally disruptive variants in the voltage-gated sodium channel gene SCN4A in a small subset of SIDS cases.
In Genome Biology this week: transcription factor use among brittle stars, single-cell RNA sequencing strategy, and more.
The Epigenetics For Female Personalised Cancer Care (EpiFemCare) project recently published its findings in two papers in the journal Genome Medicine.
The model aims to uncover stroke patients at high, medium, or low risk of cerebral amyloid angiopathy, which is linked to additional strokes or dementia.
Based on their genome-wide association study, investigators argued that the dementia condition is not simply an extension of Alzheimer's or Parkinson's disease.
The team said that by understanding why some members of this family don't feel pain, they could unearth new drug targets to treat others with chronic pain.
The Telegraph reports that philosopher Jeremy Bentham is to have his DNA tested.
With new gene sequencing panels, investigators made firm or possible diagnoses in almost one-third of undiagnosed autoinflammation and vasculitis cases.
Researchers led by the Wellcome Trust Sanger Institute also reported that combined chromothripsis and amplification might be a driving mechanism of osteosarcoma.
Saphetor's software-as-a-service platform automatically annotates and classifies genetic variants from next-generation sequencing data.
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.