Article
Genome Sequencing for Diagnosing Rare Diseases.
The New England journal of medicine - 6 Jun 2024
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
Abstract excerpt
BACKGROUND: Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains poorly defined. METHODS: We sequenced and analyzed the genomes of families with diverse phenotypes who were suspected to have a rare monogenic disease and for whom genetic testing had not...
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