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Once a Good Assembly Goes Bad, It's Gone Forever

At Omics! Omics!, Keith Robison asks why genomes may not fully assemble. Taking the example of the platypus genome, Robison walks through three possible reasons why assemblies "go bad." First, the platypus genome is chock-full of repeated sequences which can affect assembly. Next, Robison says that either random or non-random under-sampling may have occurred — non-random under-sampling may be due to regions that don't do well growing up in E. coli or that don't PCR up well. Finally, Robison says "assembly rot" could be due to different mutations being introduced into certain regions of the clones while propagating in E. coli.

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.