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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Massive parallel sequencing has revolutionized the search for pathogenic variants in the human genome, but for routine diagnosis, re-sequencing of the complete human genome in a large cohort of patients is still far too expensive. Recently, novel genome partitioning methods have been developed that...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer Berlin Heidelberg
2010
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2882650/ https://ncbi.nlm.nih.gov/pubmed/21836662 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11568-010-9137-y |
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