Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

Abstract Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians and families is unclear. We...

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Autors principals:	Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2024-04-01
Col·lecció:	npj Genomic Medicine
Accés en línia:	https://doi.org/10.1038/s41525-024-00408-w
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