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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NPR reports that researchers in Italy are testing a gene drive aimed at controlling mosquito populations.

Researchers may experience the effects of the government shutdown for a while, the Los Angeles Times reports.

A new study finds that the majority of patients at a Tijuana clinic received a diagnosis after first-line genome sequencing, the San Diego Union-Tribune reports.

In Genome Biology this week: post-transcriptional modification-based stratification of glioblastoma, single-cell analysis of gene expression and methylation in human iPSCs, and more.