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

Thomas Nicholas,Andrew Farrell,Shawn Rynearson,Carson Holt,Steven Boyden,Barry Moore,Najla Al-Sweel,Christine Miller,Lucilla Pizzo,Chelsea Solorzano,Rachel Palmquist,Ashley Andrews,Rong Mao,Pinar Bayrak-Toydemir,Eric Fredrickson,Katherine Noble,Brian Shayota,Joshua Bonkowsky,John Carey,Sabrina Malone-Jenkins

Genetics in Medicine Open（2023）

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structural variants,diagnostic yields,rare disease cases
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