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This Week in Nature: Aug 3, 2017

In this week's Nature, an international research team reports using the genome-editing technology CRISPR/Cas9 to correct a disease-causing mutation in pre-implantation human embryos. In their study, the reseachers focused on a gene called MYBPC3, which is mutated in hypertrophic cardiomyopathy (HCM). The group produced zygotes by fertilizing oocytes from healthy donors with sperm from a heterozygous male carrier of the HCM-causing mutation, then used CRISPR to cut the mutant sequence. In about two-thirds of cases, these DNA breaks were repaired correctly using the non-mutated copy of this gene from the unaffected donor. The scientists were also able to eliminate mosaicism and found no evidence of CRISPR-related off-target effects. While promising, the researchers stress that additional work is required before this kind of gene-editing can translate to the clinic. GenomeWeb has more on this study, here.

Also in Nature, a Harvard-led research group reports genomic data from ancient European and Anatolian individuals, including Mycenaeans from mainland Greece and Minoans from Crete, providing new insights into the origins of these two prominent cultures. The investigators specifically analyzed genome-wide data from 19 ancient individuals, including 10 Minoans from Crete dating to around 2900 BC to 1700 BC, four Mycenaeans from the Greek mainland dating to around 1700 BC to 1200 BC, and three individuals from southwestern Anatolia dating to around 2800 BC to 1800 BC. The Minoans and Mycenaeans were genetically very similar, sharing about 75 percent of their ancestry with the first Neolithic farmers of western Anatolia and the Aegean, the researchers report. The Mycenaeans, however, also showed additional ancestry related to Bronze Age inhabitants of the Eurasian steppe. The work further reveals that modern-day Greeks share ancestry with the Mycenaeans, but also have some early Neolithic ancestry.

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.