Article
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
HGG advances - 9 Apr 2026
Rockowitz Shira, Shao Wanqing, French Courtney, Truong Tina K, Hagen Jacob, McGonigle Rylee, Geltzeiler Alexa, Sheidley Beth, Smith Lacey, D'Gama Alissa M, Irons Mira, Chou Janet, Stoler Joan, Kritzer Amy, Rodan Lance, Shimamura Akiko, Bodamer Olaf, Sacharow Stephanie, Soul Janet S, Srivastava Siddharth, Kennedy Amy Roberts, Abu-El-Haija Aya, Lai Abbe, Olson Heather, Juusola Jane, Ryan Erin, Friedman Bethany, Singh Anupama, Li Cliff, Mallik Rittika, Strickland Gwendolyn, Prinzing Gillian, Mo Alisa, O'Donnell-Luria Anne, Bolton Jeff, Boone Philip M, Brucker William, Duyzend Michael, Mahida Sonal, Miller David T, Omorodion Jacklyn, Petit Jeanette, Picker Jonathan, Poduri Annapurna, Carlston Colleen, Wojcik Monica H, Sliz Piotr, Chung Wendy K
Abstract excerpt
Genomic reanalysis can identify causative variants for rare diseases as patient phenotypes evolve and gene-disease knowledge expands. Despite its diagnostic value, routine reanalysis is limited by clinician capacity, lack of patient follow-up, data silos, cost, and lack of availability of clinical data to testing laboratories that are not obligated to conduct reanalysis. The Children's Rare Disease Collaborative...
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