MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing

Next-generation sequencing has led to transformative advances in our ability to diagnose rare diseases by simultaneously sequencing dozens, hundreds, or even entire genomes worth of genes to efficiently identify pathogenic mutations. These studies amount to multiple hypothesis testing on a massive s...

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Detalles Bibliográficos
Autores principales: Marttila, Minttu, Win, Wathone, Al-Ghamdi, Fouad, Abdel-Hamid, Hoda Z., Lacomis, David, Beggs, Alan H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672024/
https://www.ncbi.nlm.nih.gov/pubmed/31127036
http://dx.doi.org/10.1101/mcs.a004184

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672024/
https://www.ncbi.nlm.nih.gov/pubmed/31127036
http://dx.doi.org/10.1101/mcs.a004184

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