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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders
New sequencing methods capable of rapidly analyzing the genome at increasing resolution have transformed diagnosis of single-gene or oligogenic genetic disorders in pediatric and adult medicine. Targeted tests, consisting of disease-focused multigene panels and diagnostic exome sequencing to interro...
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| Publicado no: | Cold Spring Harb Perspect Med |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4588135/ https://ncbi.nlm.nih.gov/pubmed/26253094 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a023077 |
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