Article
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome research - 1 Aug 2017
Evrony Gilad D, Cordero Dwight R, Shen Jun, Partlow Jennifer N, Yu Timothy W, Rodin Rachel E, Hill R Sean, Coulter Michael E, Lam Anh-Thu N, Jayaraman Divya, Gerrelli Dianne, Diaz Diana G, Santos Chloe, Morrison Victoria, Galli Antonella, Tschulena Ulrich, Wiemann Stefan, Martel M Jocelyne, Spooner Betty, Ryu Steven C, Elhosary Princess C, Richardson Jillian M, Tierney Danielle, Robinson Christopher A, Chibbar Rajni, Diudea Dana, Folkerth Rebecca, Wiebe Sheldon, Barkovich A James, Mochida Ganeshwaran H, Irvine James, Lemire Edmond G, Blakley Patricia, Walsh Christopher A
Abstract excerpt
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome...
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