Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.

A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-scale genomic screens. Yet, knowledge of disease incidence is important for clinicians and researchers to guide health policy planning. Here, we adjusted a statistical method based on genetic data to predict, for the first time, the incidences of 101 known de novo variant-associated neurodevelopmental disorders as well as 3106 putative monogenic disorders. Two corroboration analyses supported the validity of the calculated estimates. First, greater predicted gene-disorder incidences positively correlated with larger numbers of pathogenic variants collected from patient variant databases (Kendall’s τ = 0.093, P-value = 6.9 × 10−6). Second, for six of seven (86%) de novo variant associated monogenic disorders for which epidemiological estimates were available (SCN1A, SLC2A1, SALL1, TBX5, KCNQ2, and CDKL5), the predicted incidence estimates matched the reported estimates. We conclude that in the absence of epidemiological data, our catalogue of 3207 incidence estimates for disorders caused by de novo variants can guide patient advocacy groups, clinicians, researchers, and policymakers in strategic decision-making.

https://findresearcher.sdu.dk:8443/ws/files/170280544/awaa051.pdf

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Provided herein are novel methods, systems and processes for generating and analyzing sequence data for the determination of the presence or absence of one or more genetic variations within a genome of a subject.

Methods, systems and processes of identifying genetic variations

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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Methods, systems and processes of identifying genetic variations