Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

OBJECTIVE: To determine how single nucleotide variants (SNVs) and copy number variants (CNVs) contribute to molecular diagnosis in familial Parkinson disease (PD), we integrated exome sequencing (ES) and genome-wide array-based comparative genomic hybridization (aCGH) and further probed CNV structur...

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Detalles Bibliográficos
Autores principales: Robak, Laurie A., Du, Renqian, Yuan, Bo, Gu, Shen, Alfradique-Dunham, Isabel, Kondapalli, Vismaya, Hinojosa, Evelyn, Stillwell, Amanda, Young, Emily, Zhang, Chaofan, Song, Xiaofei, Du, Haowei, Gambin, Tomasz, Jhangiani, Shalini N., Coban Akdemir, Zeynep, Muzny, Donna M., Tejomurtula, Anusha, Ross, Owen A., Shaw, Chad, Jankovic, Joseph, Bi, Weimin, Posey, Jennifer E., Lupski, James R., Shulman, Joshua M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413630/
https://www.ncbi.nlm.nih.gov/pubmed/32802956
http://dx.doi.org/10.1212/NXG.0000000000000498

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413630/
https://www.ncbi.nlm.nih.gov/pubmed/32802956
http://dx.doi.org/10.1212/NXG.0000000000000498

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