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A study found that cis-regulatory variation modifies the penetrance of coding variants, and that variants' regulatory haplotype configuration affects disease risk.
The New York Genome Center created MetroNome as a way to show genomic data in the context of phenotypes, but integration challenges lie ahead.
The funding from the Mark Foundation for Cancer Research will support an initiative to investigate cancer genomics in ethnically diverse populations.
Researchers at the annual Association of Biomolecular Resource Facilities meeting said they are joining single-cell sequencing to other single-cell analyses.
Lancet, developed by the New York Genome Center, uses colored de Bruijn graphs to jointly analyze tumor and normal reads.
Using exome sequence and questionnaire data, researchers saw links between motor skills and likely gene disruptive or missense de novo mutations.
Using a portable DNA sequencer and a Bayesian algorithm, researchers reported being able to reidentify humans from DNA within minutes of sequencing.
The group has filed a patent on the method and is interested in teaming up with an industry partner to commercialize it.
The team said the resource allows for single-target or combinatorial genetic screens to be carried out at scale in a multiplexed or arrayed format.
New York Genome Center, Rockefeller University, and IBM researchers combined whole-genome sequencing with Watson to analyze a glioblastoma sample.
Politico reports that the NYPD DNA database has grown since it announced it would be removing profiles from it.
Forbes reports that a structural biology lab at Oxford University studying the coronavirus was hacked.
Science reports that a Dutch research funding agency is combating a ransomware attack.
In Science this week: set of 64 haplotype assemblies from 32 individuals, and more.