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.
A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.
Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.
In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.
A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.