Tackling the Achilles’ Heel of Genetic Testing

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Science Translational Medicine  14 Jan 2015:
Vol. 7, Issue 270, pp. 270fs1
DOI: 10.1126/scitranslmed.aaa4276

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Assigning pathogenicity to rare genetic variants is at its hardest with the enormous titin gene, but comprehensive genomic analysis makes the task more tractable (Roberts et al., this issue).

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