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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.

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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A man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.

The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.

Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.

In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.