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Dataset - An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Details
Dataset - An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
ISSN
1756-994X
Date Issued
2026
Author(s)
POLI HARLOWE, MARIA CECILIA BERTA
Facultad de Medicina Clínica Alemana Universidad del Desarrollo
Publication(s)
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families