Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

Summary: Genome sequencing is a powerful and comprehensive test that detects multiple variants of different types. The interrogation of variants across the genome enables the identification of multiple molecular diagnoses (MMDs) in a single individual. In this retrospective study, we describe indivi...

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Main Authors: Alka Malhotra, Erin Thorpe, Alison J. Coffey, Revathi Rajkumar, Josephine Adjeman, Naomi Dianne Naa Adjeley Adjetey, Sharron Aglobitse, Felix Allotey, Todor Arsov, Joyce Ashong, Ebenezer Vincent Badoe, Donald Basel, Yvonne Brew, Chester Brown, Kerri Bosfield, Kari Casas, Mario Cornejo-Olivas, Laura Davis-Keppen, Abbey Freed, Kate Gibson, Parul Jayakar, Marilyn C. Jones, Martina Kawome, Aimé Lumaka, Ursula Maier, Prince Makay, Gioconda Manassero, Marilyn Marbell-Wilson, Charles Marcuccilli, Diane Masser-Frye, Julie McCarrier, Hannah-Sharon Mills, Jeny Balazar Montoya, Gerrye Mubungu, Mamy Ngole, Jorge Perez, Eniko Pivnick, Milagros M. Duenas-Roque, Hildegard Pena Salguero, Arturo Serize, Marwan Shinawi, Fabio Sirchia, Claudia Soler-Alfonso, Alan Taylor, Lauren Thompson, Gail Vance, Adeline Vanderver, Keith Vaux, Danita Velasco, Samuel Wiafe, Ryan J. Taft, Denise L. Perry, Akanchha Kesari
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:HGG Advances
Subjects:
multiple molecular diagnoses
WGS
rare disease
secondary finding
incidental finding
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000338
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http://www.sciencedirect.com/science/article/pii/S2666247725000338

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