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2. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

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3. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

7. P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines

9. P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2

11. P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care

12. OP041: Implementation of 2019 ACMG technical standards for the interpretation and reporting of constitutional CNVs: Experiences from an academic reference laboratory