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)
Authors
Affiliations
Hahn E, Dharmadhikari A, Markowitz A, Estrine D, Quindipan C, Maggo S NPJ Genom Med. 2025; 10(1):16.
PMID: 39984494 PMC: 11845629. DOI: 10.1038/s41525-025-00478-4.
Mori M, Chaudhari B, Ream M, Kemper A Pediatr Res. 2024; .
PMID: 39516573 DOI: 10.1038/s41390-024-03689-0.
Bonfiglio F, Legati A, Lasorsa V, Palombo F, De Riso G, Isidori F Hum Genomics. 2024; 18(1):120.
PMID: 39501379 PMC: 11536923. DOI: 10.1186/s40246-024-00684-8.
Atik T, Durmusalioglu E, Isik E, Kose M, Kanmaz S, Aykut A BMC Med Genomics. 2024; 17(1):239.
PMID: 39350166 PMC: 11441242. DOI: 10.1186/s12920-024-02015-1.
Grant J, Herman E, Barlow L, Miglior F, Schenkel F, Baes C BMC Genomics. 2024; 25(1):903.
PMID: 39350025 PMC: 11440700. DOI: 10.1186/s12864-024-10812-2.