Genome Sequencing for Diagnosing Rare Diseases

Genetic diagnosis of rare diseases is made through a variety of methods. This study gauged the diagnostic yield of genome sequencing after negative results from exome sequencing and other methods.

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Veröffentlicht in:	The New England journal of medicine 2024-06, Vol.390 (21), p.1985-1997
Hauptverfasser:	Wojcik, Monica H., Lemire, Gabrielle, Berger, Eva, Zaki, Maha S., Wissmann, Mariel, Win, Wathone, White, Susan M., Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B., Verboon, Jeffrey M., VanNoy, Grace E., Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L., Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G., Schneider, Ronen, Sankaran, Vijay G., Sanchis-Juan, Alba, Russell, Kathryn A., Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A., Place, Emily M., Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O’Leary, Melanie, O’Heir, Emily, Morel, Chantal F., Merkenschlager, Andreas, Marchant, Rhett G., Mangilog, Brian E., Madden, Jill A., MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P., Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G., Ghaoui, Roula, Genetti, Casie A., Gburek-Augustat, Janina, Gazda, Hanna T., Ganesh, Vijay S., Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M., Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T., Chung, Wendy K., Christodoulou, John, Chao, Katherine R., Cato, Liam D., Bujakowska, Kinga M., Bryen, Samantha J., Brand, Harrison, Bönnemann, Carsten G., Beggs, Alan H., Baxter, Samantha M., Bartolomaeus, Tobias, Agrawal, Pankaj B., Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L., O’Donnell-Luria, Anne
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Child Cohort Studies Diagnosis Exome Exome Sequencing Female Genes Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - ethnology Genetic Diseases, Inborn - genetics Genetic diversity Genetic screening Genetic Testing Genetic Variation Genetics Genetics General Genome, Human Genomes Genomics Genotype & phenotype Humans Laboratories Male Medical diagnosis Pediatrics Pediatrics General Phenotype Phenotypes Rare diseases Rare Diseases - diagnosis Rare Diseases - ethnology Rare Diseases - genetics Replication Review boards Sequence Analysis, DNA Whole Genome Sequencing Young Adult
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Beschreibung
Zusammenfassung:	Genetic diagnosis of rare diseases is made through a variety of methods. This study gauged the diagnostic yield of genome sequencing after negative results from exome sequencing and other methods.
ISSN:	0028-4793 1533-4406 1533-4406
DOI:	10.1056/NEJMoa2314761