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  4. An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Details

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families

Journal
Genome Medicine
ISSN
1756-994X
Date Issued
2025-12-31
Author(s)
Haowei Du
Ming Yin Lun
Lidiia Gagarina
Jesse D. Bengtsson
Christopher M. Grochowski
Michele G. Mehaffey
James Paul Hwang
Shalini N. Jhangiani
Sravya V. Bhamidipati
Donna M. Muzny
POLI HARLOWE, MARIA CECILIA BERTA  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Sebastian Ochoa
Ivan K. Chinn
Anna Lindstrand
Jennifer E. Posey
Richard A. Gibbs
Pengfei Liu
James R. Lupski
Claudia M. B. Carvalho
Type
journal-article
DOI
10.1186/s13073-025-01593-8
URL
https://hdl.handle.net/123456789/12116
Dataset(s)
Dataset - An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families  
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