Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

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Bibliographische Detailangaben
Veröffentlicht in:	Genetics in medicine 2023-02, Vol.25 (2), p.100316-100316, Article 100316
Hauptverfasser:	Raca, Gordana, Astbury, Caroline, Behlmann, Andrea, De Castro, Mauricio J., Hickey, Scott E., Karaca, Ender, Lowther, Chelsea, Riggs, Erin Rooney, Seifert, Bryce A., Thorland, Erik C., Deignan, Joshua L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Balanced rearrangements Copy number variants Exome sequencing Genetic Testing Genetics, Medical Genome sequencing Genomics Germ Cells High-Throughput Nucleotide Sequencing Humans Structural variants United States
Online-Zugang:	Volltext
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