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.
Researchers applied a SNP heritability model called LDAK to genetic data for a range of human traits, uncovering relatively high levels of variance explained by SNPs.
The researchers noted that 93 of the newly identified loci are found in both African-American and European populations, and only 18 are European-specific.
Geneticist David Latchman tells Nature News he did not produce or oversee the production of images at the center of the research misconduct investigation he's involved in.
Two children treated with a gene-editing therapy for their leukemia are healthy a year later, according to New Scientist.
Researchers have released new tools for analyzing epigenomic data as part of the International Human Epigenome Consortium.
At the Guardian, Jenny Rohn describes one ongoing approach to promote equality in the sciences.
The new firm, created by Syncona and Cancer Research Technology, has raised $17.5 million to support development of individualized therapies targeted to tumor neoantigens.
Two researchers have found that behavioral genetic defenses in criminal cases don't tend to affect outcomes, according to Popular Science.
Researchers report that while host genetics influence the oral microbiome, they don't appear to affect cavity-causing microbes, the Economist says.
Pandas' gut microbiomes change as what they eat changes with the seasons, writes Discover's Inkfish blog.
In PLOS this week: comparative genomic study of malaria-linked macaque parasite, search for apple root reference genes, and more.