• Mendelian Puzzles

    Variations that lie outside of the coding region of a mutated gene can give rise to a range of clinical phenotypes for a Mendelian genetic disorder.

  • Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

    Mutation in either of a pair of neighboring, coordinately expressed genes causes indistinguishable human disease.

  • James F. Crow (1916–2012)

    A population geneticist is remembered by colleagues for his generosity, clarity, and influence in the field, as well as in policy matters involving genetics.

  • A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

    Validation of predicted nonfunctional alleles in the human genome affects the medical interpretation of genomic analyses.

  • Around the World

    In science news around the world this week, a senator is questioning the FDA about its actions in response to a lawsuit brought by whistleblowers, an Indiana creationism bill is unlikely to advance, Russian space scientists may build a new version of the failed Fobos-Grunt sample return spacecraft, the genome of an extinct human is now online, the Kavli Foundation is endowing its first institute in Japan, Minnesota began destroying blood samples collected in its newborn-screening program, scientists are boycotting Elsevier to protest its journal pricing, and a report outlines the steps needed to increase the number of U.S. science degrees.

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