2019Molecular CytogeneticsOpen access

From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

Jesper Eisfeldt, Johanna Lundin, Maria Pettersson, Malin Kvarnung, Agne Liedén, Ellika Sahlin, Kristina Lagerstedt‐Robinson, Marcel Martin, Sofia Ygberg, Olof Bjerin, Henrik Stranneheim, Anna Wedell, Magnus Nordenskjöld, Maria Soller, Ann Nordgren, Valtteri Wirta, Daniel Nilsson, Anna Lindstrand

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Key concepts: Cytogenetics, Human genetics, Genetic testing, Disease, Computational biology, Whole genome sequencing, Biology, Genetics

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From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics — Research Paper | ScholarLens