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haplotype

The UCSD spinout has developed a modified version of the Hi-C protocol to capture chromatin conformation that uses multiple restriction enzymes.

A study found that cis-regulatory variation modifies the penetrance of coding variants, and that variants' regulatory haplotype configuration affects disease risk.

With FALCON-Phase, investigators used PacBio long reads and Hi-C data from Phase Genomics to assemble a haplotype-phased, diploid genome for a hybrid bull.

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.

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The American Prospect writes that the pilot program to test the DNA of migrants could lead to more family separations.

An international commission is to develop a report on how researchers, clinicians, and regulators should evaluate the clinical applications of human germline genome editing.

The US Department of Agriculture presents a new blueprint for animal genomic research.

In Genome Research this week: repetitive element deletion linked to altered methylation and more in form of muscular dystrophy; human contamination in draft bacterial and archaeal genomes; and more.