haplotype

A team reconstructed 38 percent of the maternal genome of an 18th century Icelandic immigrant and found that his mother came from a specific African region.

Investigators identified ties between autism spectrum disorder and mitochondrial haplogroups in mtDNA variant data from nearly 1,000 ASD-affected families.

The method generates megabase-scale phased haplotype blocks and can be automated and scaled up to process samples for population sequencing projects.

This Week in Nature

In Nature this week: mitochondrial genome of extinct South American ungulate, and more.

Researchers showed in a new study that patterns of methylation co-occuring at different sites could help distinguish cancer DNA in the blood, and mark its original source in body.

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. 

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Researchers have treated an X-linked genetic disease affecting three babies in utero, Stat News reports.

The Associated Press reports that the US Centers for Disease Control and Prevention is beefing up sequencing as a tool to investigate foodborne illnesses.

Researchers have sequenced samples from ancient toilets to study past eating habits and health, NPR reports.

In Nature this week: ash dieback disease fungal genome, and more.