Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection

Genome-sequence-based newborn screening (gNBS) has substantial potential to improve outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major impediment to gNBS is imprecision due to variants classified as pathogenic (P) or likely pathogenic (LP) that are not SCGD causal....

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Veröffentlicht in:	American journal of human genetics 2024-12, Vol.111 (12), p.2618-2642
Hauptverfasser:	Kingsmore, Stephen F., Wright, Meredith, Smith, Laurie D., Liang, Yupu, Mowrey, William R., Protopsaltis, Liana, Bainbridge, Matthew, Baker, Mei, Batalov, Sergey, Blincow, Eric, Cao, Bryant, Caylor, Sara, Chambers, Christina, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Hugh, Madhavrao, Lakshminarasimha, Lefebvre, Sebastien, Leipzig, Jeremy, Mardach, Rebecca, Moore, Barry, Oh, Danny, Olsen, Lauren, Ontiveros, Eric, Owen, Mallory J., Reimers, Rebecca, Scharer, Gunter, Schleit, Jennifer, Shelnutt, Seth, Mehtalia, Shyamal S., Oriol, Albert, Sanford, Erica, Schwartz, Steve, Wigby, Kristen, Willis, Mary J., Yandell, Mark, Kunard, Chris M., Defay, Thomas
Format:	Artikel
Sprache:	eng
Schlagworte:	artificial intelligence Child diplotype false positive Female genetic architecture Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Testing - methods genome sequencing Genome, Human Haplotypes - genetics Humans infant mortality Infant, Newborn Male Neonatal Screening newborn screening purifying hyperselection query federation severe childhood genetic diseases
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