O35: Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants in SDHD without parental data*
Kasmintan Schrader,Vahid Akbari,Vincent Hanlon,Katherine Dixon,Kieran O’Neill,Yaoqing Shen,Alshanee Sharma,Janine Senz, Yanni Wang,Daniel Chan,Alexandra Fok,Quan Hong,Jennifer Nuk,Dean Regier,Alice Virani,Louis Lefebvre, Fabio Feldman,Marco Marra,Sophie Sun,Stephen Yip,Peter Lansdorp,Steven Jones Genetics in Medicine Open(2023)
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pathogenic variants,sdhd,parent-of-origin-aware
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