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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| Veröffentlicht in: | Genetics in medicine 2023-02, Vol.25 (2), p.100316-100316, Article 100316 |
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| container_end_page | 100316 |
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| container_issue | 2 |
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| container_title | Genetics in medicine |
| container_volume | 25 |
| creator | 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. |
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| doi_str_mv | 10.1016/j.gim.2022.09.017 |
| format | Article |
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| identifier | ISSN: 1098-3600 |
| ispartof | Genetics in medicine, 2023-02, Vol.25 (2), p.100316-100316, Article 100316 |
| issn | 1098-3600 1530-0366 |
| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | 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 |
| title | 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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