PerkinElmer may be nearing an FDA submission for a panel based on technology from the University of Washington, amid a push for state-mandated screening programs.
Using genotyping and tissue-specific expression data from the Genotype-Tissue Expression project, researchers characterized Neanderthal allele-specific expression.
Two studies described de novo gene mutations involved in autism spectrum disorder and other neurodevelopmental conditions, while weeding out unrelated changes.
The funding will, in part, support efforts to expand the project's catalog of functional elements and understand their roles in different contexts.
As part of a broader analysis, Genome 10K researchers compared hummingbird genome assemblies with Phase Genomics Hi-C and Dovetail Genomics Hi-C.
A small study has found that two next-generation sequencing tests that examined the same cancers uncovered different genetic alterations.
The team is making several improvements to its MyGene2 platform portal in an attempt to encourage open sharing of genomic data.
Looking at European, East Asian, South Asian, and Melanesian genomes , researchers narrowed in on apparently adaptive archaic sequences over-represented in non-Africans.
The database is intended to provide the research community with a resource of control cases to aid in the evaluation of variants of unknown significance in breast cancer.
A team from Radboud University in the Netherlands performed a new detailed and transparent cost analysis for sequencing based on both static costs, and factors that may differ from institution to institution.
An opinion piece in the New York Times urges lawmakers to keep genetic protections in place.
Research funding in Canada is to remain mostly the same, ScienceInsider reports.
In Science this week: random DNA replication errors play role in cancer, and more.
The Bill and Melinda Gates Foundation embarks on an open-access publishing path.