Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

BACKGROUND: Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) often elude conventional genome sequencing variant calling p...

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Detalles Bibliográficos
Autores principales: Nicholas, Thomas J., Al‐Sweel, Najla, Farrell, Andrew, Mao, Rong, Bayrak‐Toydemir, Pinar, Miller, Christine E., Bentley, Dawn, Palmquist, Rachel, Moore, Barry, Hernandez, Edgar J., Cormier, Michael J., Fredrickson, Eric, Noble, Katherine, Rynearson, Shawn, Holt, Carson, Karren, Mary Anne, Bonkowsky, Joshua L., Tristani‐Firouzi, Martin, Yandell, Mark, Marth, Gabor, Quinlan, Aaron R., Brunelli, Luca, Toydemir, Reha M., Shayota, Brian J., Carey, John C., Boyden, Steven E., Malone Jenkins, Sabrina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000945/
https://www.ncbi.nlm.nih.gov/pubmed/35119225
http://dx.doi.org/10.1002/mgg3.1888

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