A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

Large-scale sequencing efforts in amyotrophic lateral sclerosis (ALS) have implicated novel genes using gene-based collapsing methods. However, pathogenic mutations may be concentrated in specific genic regions. To address this, we developed two collapsing strategies: One focuses rare variation coll...

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Detalles Bibliográficos
Autores principales: Gelfman, Sahar, Dugger, Sarah, de Araujo Martins Moreno, Cristiane, Ren, Zhong, Wolock, Charles J., Shneider, Neil A., Phatnani, Hemali, Cirulli, Elizabeth T., Lasseigne, Brittany N., Harris, Tim, Maniatis, Tom, Rouleau, Guy A., Brown, Robert H., Gitler, Aaron D., Myers, Richard M., Petrovski, Slavé, Allen, Andrew, Goldstein, David B., Harms, Matthew B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499321/
https://www.ncbi.nlm.nih.gov/pubmed/30940688
http://dx.doi.org/10.1101/gr.243592.118

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