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This Week in Nature: Oct 13, 2011

In a paper published online in advance in Nature this week, an international team led by investigators at Ewha Womans University in Seoul reports its sequencing and anlaysis of the Heterocephalus glaber — naked mole rat — genome. The team says its analysis "reveals unique genome features and molecular adaptations consistent with cancer resistance, poikilothermy, hairlessness and insensitivity to low oxygen, and altered visual function, circadian rythms, and taste sensing." The researchers investigated the naked mole rat genome and transcriptome, unearthing insights into the animal's "exceptional longevity and ability to live in hostile conditions, in the dark and at low oxygen." Daily Scan sister publication GenomeWeb Daily News has more on this study.

In a paper published online in advance this week, an international team led by investigators at the Broad Institute reports a high-resolution map of human evolutionary constraint, which it generated based on the genome sequences of 29 eutherian mammals. The team identifies "220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions," as well as "280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements." Overall, the Broad-led team says overlap among disease-associated variants "indicates that our findings will be relevant for studies of human biology, health and disease."

Also this week, a team led by investigators at the Wellcome Trust Sanger Institute reports that "a combination of zinc finger nucleases and piggyback technology in human iPSCs [induced pluripotent stem cells] can achieve biallelic correction of a point mutation (Glu342Lys) in the α1-antitrypsin (A1AT, also known as SERPINA1) gene that is responsible for α1-antitrypsin deficiency." Further, the team shows that such "genetic correction of human iPSCs restored the structure and function of A1AT in subsequently derived liver cells in vitro and in vivo."

The Scan

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.

Researchers Retrace Key Mutations in Reassorted H1N1 Swine Flu Virus With Avian-Like Features

Mutations in the acidic polymerase-coding gene boost the pathogenicity and transmissibility of Eurasian avian-like H1N1 swine influenza viruses, a PNAS paper finds.

Genome Sequences Reveal Evolutionary History of South America's Canids

An analysis in PNAS of South American canid species' genomes offers a look at their evolutionary history, as well as their relationships and adaptations.

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.