An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

PURPOSE: We investigated the diagnostic and clinical performance of trio exome sequencing (ES) in parent–fetus trios where the fetus had sonographic abnormalities but normal karyotype, microarray and, in some cases, normal gene-specific sequencing. METHODS: ES was performed from DNA of 102 anomalous...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Vora, Neeta L., Gilmore, Kelly, Brandt, Alicia, Gustafson, Chelsea, Strande, Natasha, Ramkissoon, Lori, Hardisty, Emily, Foreman, Ann Katherine M., Wilhelmsen, Kirk, Owen, Phillips, Weck, Karen E., Berg, Jonathan S., Powell, Cynthia M., Powell, Bradford C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7205580/
https://ncbi.nlm.nih.gov/pubmed/31974414
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0750-4
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