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Nature Papers Include Tool for Hybrid Genome Assembly, Evidence of Horizontal Indirect Genetic Effects

A computational tool for the hybrid de novo assembly of human genomes is presented in Nature Biotechnology this week. The algorithm's developers at the University of Tübingen and the University of Lyon demonstrate the technology by assembling four human genomes using a combination of sequencing data generated on Oxford Nanopore Technology PromethION, PacBio Sequel, Illumina, and MGI technology platforms. "The resulting genome assemblies have high contiguity, few assembly errors, good consensus quality, and high gene completeness, while consuming low computational resources," they write.

A study of complex traits in thousands of couples in this week's Nature Human Behaviour reveals evidence of horizontal indirect genetic effects (IGEs) in humans. IGEs, which occur when the genotype of one individual affects the phenotype of another, have primarily been described in humans on a vertical basis, such as the role of a mother's genetics on her child's birth weight. To explore the existence of horizontal IGEs in humans, University of Edinburgh researchers examined 105 complex traits in over 80,000 couples of European ancestry. Findings were replicated in around 8,000 sibling pairs and other couples of mixed ancestry. They find evidence of partner heritability on roughly 50 percent of the analyzed traits. "Follow-up analysis suggests that in at least [about] 25 percent of these traits, the partner heritability is consistent with the existence of indirect genetic effects including a wide variety of traits such as dietary traits, mental health, and disease," the study's authors write. The findings point to the need for new ways of studying the environment, they add.

The Scan

Germline-Targeting HIV Vaccine Shows Promise in Phase I Trial

A National Institutes of Health-led team reports in Science that a broadly neutralizing antibody HIV vaccine induced bnAb precursors in 97 percent of those given the vaccine.

Study Uncovers Genetic Mutation in Childhood Glaucoma

A study in the Journal of Clinical Investigation ties a heterozygous missense variant in thrombospondin 1 to childhood glaucoma.

Gene Co-Expression Database for Humans, Model Organisms Gets Update

GeneFriends has been updated to include gene and transcript co-expression networks based on RNA-seq data from 46,475 human and 34,322 mouse samples, a new paper in Nucleic Acids Research says.

New Study Investigates Genomics of Fanconi Anemia Repair Pathway in Cancer

A Rockefeller University team reports in Nature that FA repair deficiency leads to structural variants that can contribute to genomic instability.