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.
By examining haplotypes, Oxford University-led researchers studied how admixture and linked historical events have shaped the genetic landscape of West Eurasia.
Sequence-level analysis of European Huntington's disease haplotype indicates its long history and suggests potential targets for allele-specific gene-targeting therapies.
A new analysis founds that nearly half the late-stage clinical trials sponsored by a US National Cancer Institute program influence patient care.
The owner of the GEDmatch website tells CBS12 he is considering charging law enforcement a fee to use the site.
Technology Review reports that sickle cell patients are optimistic about gene editing to treat their disease, but are worried about how available it will be.
In Nature this week: babies born by caesarean section are more likely to have altered gut microbiota profiles, and more.