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In many fields it is now desirable to sequence large panels of genes for mutation, to aid management of patients. The need for extensive sample preparation means that current approaches for assessing mutation status in the clinical setting are limited. A recent publication demonstrates a single-step, targeted, true single-molecule sequencing approach to assessing the mutational status of BRCA1. Fragmented DNA samples are loaded directly onto a flow cell and sequenced, thus detecting both small- and large-scale mutations with minimal sample preparation and high accuracy.

Targeted next-generation sequencing for routine clinical screening of mutations