Variable Expressivity of Genes

Offit, Paul A.; Snow, Anne; Fernandez, Thomas; Cardona, Laurie; Grigorenko, Elena L.; Doyle, Carolyn A.; McDougle, Christopher J.; Bolling, Danielle; Smith, Elizabeth G.; Smith, Jonathan; Blackwell, Amanda; Thibodeau, Linda; Tang, Karen; Wier, Kristin; McDuffie, Andrea; Poyau, Shirley; Dawson, Michelle; Silverman, Laura B.; Ritvo, Edward; Montes, Guillermo; Shic, Frederick; Mehta, Smita Shukla; Miller, Trube; Prelock, Patricia; Adams, Gail Fox; Cicchetti, Domenic V.; Carter, Alice S.; Gray, Sarah A. O.; Woodbury‐Smith, Marc; Wyk, Brent Vander; Behrman, Marlene; Hutman, Ted; Schneider, Naomi; Jones, Emily; Stevens, Arianne; Bernier, Raphael; Brown, Ted; Ray-Subramanian, Corey; Nevers, Maureen; Simmons, Elizabeth Schoen; Luger, Susan; Shtayermman, Oren; VanBergeijk, Ernst; Mueller, Vannesa T.

doi:10.1007/978-1-4419-1698-3_1339

Encyclopedia of Autism Spectrum Disorders 2013

DOI: 10.1007/978-1-4419-1698-3_1339

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Variable Expressivity of Genes

Paul A. Offit¹,

Anne Snow²,

Thomas Fernandez³

et al.

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2022

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Rare disorders have many faces: in silico characterization of rare disorder spectrum

Frederiksen

Avramovic

Maroilley

et al. 2022

Orphanet J Rare Dis

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Background The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that are currently not considered in genome analysis pipelines. To better understand this, we characterized the rare disorder (RD) spectrum using various bioinformatics resources (e.g., Orphanet/Orphadata, Human Phenotype Ontology, Reactome pathways) combined with custom-made R scripts. Results Our in silico characterization led to identification of 145 borderline-common, 412 rare and 2967 ultra-rare disorders. Based on these findings and point prevalence, we would expect that approximately 6.53%, 0.34%, and 0.30% of individuals in a randomly selected population have a borderline-common, rare, and ultra-rare disorder, respectively (equaling to 1 RD patient in 14 people). Importantly, our analyses revealed that (1) a higher proportion of borderline-common disorders were caused by multiple gene defects and/or other factors compared with the rare and ultra-rare disorders, (2) the phenotypic expressivity was more variable for the borderline-common disorders than for the rarer disorders, and (3) unique clinical characteristics were observed across the disorder categories forming the spectrum. Conclusions Recognizing that RD patients who remain unsolved even after genome sequencing might belong to the more common end of the RD spectrum support the usage of computational pipelines that account for more complex genetic and phenotypic scenarios.

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Rare disorders have many faces: in silico characterization of rare disorder spectrum

Frederiksen

Avramovic

Maroilley

et al. 2022

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

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Variable Expressivity of Genes

Cited by 1 publication

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Rare disorders have many faces: in silico characterization of rare disorder spectrum

Rare disorders have many faces: in silico characterization of rare disorder spectrum

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