Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

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 as...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538549/
https://www.ncbi.nlm.nih.gov/pubmed/28630177
http://dx.doi.org/10.1101/gr.219899.116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538549/
https://www.ncbi.nlm.nih.gov/pubmed/28630177
http://dx.doi.org/10.1101/gr.219899.116

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