Exome Sequencing Study of Rare Syndrome Points to Compound Inheritance Involving Regulatory Variants | GenomeWeb

By Andrea Anderson

NEW YORK (GenomeWeb News) – In a study appearing online yesterday in Nature Genetics, investigators from the Wellcome Trust Sanger Institute, the University of Cambridge, and elsewhere used exome sequencing to reveal the compound inheritance patterns behind an autosomal recessive condition called thrombocytopenia with absent radii, or TAR, syndrome.

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