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In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined. Some reasons for this relatively low yield include unappreciated phenotypic heterogeneity; locus heterogeneity; somatic and germline mosaicis...

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Foilsithe in:Curr Protoc Hum Genet
Main Authors: Sobreira, Nara L M, Arachchi, Harindra, Buske, Orion, Chong, Jessica X., Hutton, Ben, Foreman, Julia, Schiettecatte, François, Groza, Tudor, Jacobsen, Julius O.B., Haendel, Melissa, Boycott, Kym M, Hamosh, Ada, Rehm, Heidi L.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2017
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6016856/
https://ncbi.nlm.nih.gov/pubmed/29044468
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cphg.50
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