The approach, which uses 10x Genomics technology for haplotyping, requires neither mutation-specific assays nor DNA from affected family members.
The PGP team used Complete Genomics' Long-Fragment Read technology to analyze the set of samples.
Researchers identified some 1.9 million structural variants using whole-genome sequence data from 250 families profiled for the Genome of the Netherlands project.
Researchers demonstrated that Strand-seq directional single-cell sequencing can be used to assemble consensus chromosome haplotypes for an individual.
The researchers said that the method, known as STITCH, could make it possible to perform GWAS on non-human organisms and demonstrated it on 2,000 mice.
The hybrid approach expands on one described last year by Mount Sinai researchers, and relies on short-read sequencing, linked-read sequencing, and genome mapping.
The firm will use the latest investment to support marketing and sales of its linked-read platforms and support development of future products.
The study refutes previous theories suggesting that Aboriginal Australians descended from populations migrating from India 4,000 years ago.
Collaborators will sequence 100,000 Asian genomes from various disease cohorts and generate 50 to 100 Asian-specific reference genomes.
The Broad Institute is running Chromium in its lab, while other early-access users are collaborating with 10X Genomics on single-cell RNA-seq and exome studies.
In Science this week: metagenomic-based technique for determining protein structure, and more.
An academic laments the rise of narcissism in the sciences, the Guardian reports.
Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.
The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.