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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Dettagli Bibliografici
Pubblicato in:Genome Res
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2017
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5538549/
https://ncbi.nlm.nih.gov/pubmed/28630177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.219899.116
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