P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*

Autor: Schleit, Jennifer, Wright, Meredith, Olsen, Lauren, Blincow, Eric, Caylor, Sara, Chambers, Christina, Angel, Guillermo del, Ellsworth, Katarzyna (Kasia), Feigenbaum, Annette, Frise, Erwin, Guidugli, Lucia, Hall, Kevin, Hansen, Christian, Hobbs, Charlotte, Kiel, Mark, Krilow, Chad, Kunard, Chris, Kwon, YongHyun, Madhavrao, Rao, Mehtalia, Shyamal, Mowrey, William, Le, Jennie, Leipzig, Jeremy, Liang, Yupu, Mardach, Rebecca, Oh, Danny, Owen, Mallory, Protopsaltis, Liana, Kobayashi, Erica Sanford, Scharer, Gunter, Schultz, Brandon, Shelnutt, Seth, Smith, Laurie, Tran, Duke, Van Der Kraan, Lucita, Wigby, Kristen, Willis, Mary, Wolen, Aaron, Yandell, Mark, Defay, Thomas, Kingsmore, Stephen

Publikováno v: In Genetics in Medicine Open 2024 2 Supplement 1

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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

Autor: Owen MJ; Rady Children's Institute for Genomic Medicine, San Diego, CA mowen1@rchsd.org., Niemi AK; Rady Children's Hospital, San Diego, CA., Dimmock DP; Rady Children's Institute for Genomic Medicine, San Diego, CA., Speziale M; Rady Children's Hospital, San Diego, CA., Nespeca M; Rady Children's Hospital, San Diego, CA., Chau KK; Rady Children's Institute for Genomic Medicine, San Diego, CA., Van Der Kraan L; Rady Children's Institute for Genomic Medicine, San Diego, CA., Wright MS; Rady Children's Institute for Genomic Medicine, San Diego, CA., Hansen C; Rady Children's Institute for Genomic Medicine, San Diego, CA., Veeraraghavan N; Rady Children's Institute for Genomic Medicine, San Diego, CA., Ding Y; Rady Children's Institute for Genomic Medicine, San Diego, CA., Lenberg J; Rady Children's Institute for Genomic Medicine, San Diego, CA., Chowdhury S; Rady Children's Institute for Genomic Medicine, San Diego, CA., Hobbs CA; Rady Children's Institute for Genomic Medicine, San Diego, CA., Batalov S; Rady Children's Institute for Genomic Medicine, San Diego, CA., Zhu Z; Rady Children's Institute for Genomic Medicine, San Diego, CA., Nahas SA; Rady Children's Institute for Genomic Medicine, San Diego, CA., Gilmer S; Rady Children's Hospital, San Diego, CA., Knight G; Rady Children's Hospital, San Diego, CA., Lefebvre S; Alexion Pharmaceuticals, Boston, MA., Reynders J; Alexion Pharmaceuticals, Boston, MA., Defay T; Alexion Pharmaceuticals, Boston, MA., Weir J; Illumina, San Diego, CA., Thomson VS; Illumina, San Diego, CA., Fraser L; Illumina, San Diego, CA., Lajoie BR; Illumina, San Diego, CA., McPhail TK; Illumina, San Diego, CA., Mehtalia SS; Illumina, San Diego, CA., Kunard CM; Illumina, San Diego, CA., Hall KP; Illumina, San Diego, CA., Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, CA skingsmore@rchsd.org.

Publikováno v: The New England journal of medicine [N Engl J Med] 2021 Jun 03; Vol. 384 (22), pp. 2159-2161.