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Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

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Title: Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Authors: Kaschta, Daniel1 (AUTHOR), Post, Christina1 (AUTHOR), Gaass, Franziska1 (AUTHOR), Al-Tawil, Milad2 (AUTHOR), Arriens, Vincent1 (AUTHOR), Balachandran, Saranya1 (AUTHOR), Bäumer, Tobias3 (AUTHOR), Berge, Valerie4 (AUTHOR), Birgel, Friederike1 (AUTHOR), Dalski, Andreas1 (AUTHOR), Dittmar, Maike1 (AUTHOR), Franke, Andre5 (AUTHOR), Franzenburg, Sören5 (AUTHOR), Fuß, Janina5 (AUTHOR), Gehring, Bettina6 (AUTHOR), Gembicki, Rebecca1 (AUTHOR), Greiten, Bianca1 (AUTHOR), Grohte, Kristin1 (AUTHOR), Hanker, Britta1 (AUTHOR), Händler, Kristian1 (AUTHOR)
Source: Genome Medicine. 9/18/2025, Vol. 17 Issue 1, p1-15. 15p.
Database: Academic Search Ultimate
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ISSN:1756994X
DOI:10.1186/s13073-025-01516-7