An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Haowei Du
raw_affiliation_strings: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Ming Yin Lun
raw_affiliation_strings: Pacific Northwest Research Institute, Seattle, WA, 98122, USA
raw_author_name: Lidiia Gagarina
raw_affiliation_strings: Pacific Northwest Research Institute, Seattle, WA, 98122, USA
raw_author_name: Jesse D. Bengtsson
raw_affiliation_strings: Pacific Northwest Research Institute, Seattle, WA, 98122, USA
raw_author_name: Christopher M. Grochowski
raw_affiliation_strings: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Michele G. Mehaffey
raw_affiliation_strings: Pacific Northwest Research Institute, Seattle, WA, 98122, USA
raw_author_name: James Paul Hwang
raw_affiliation_strings: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Shalini N. Jhangiani
raw_affiliation_strings: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Sravya V. Bhamidipati
raw_affiliation_strings: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Donna M. Muzny
raw_affiliation_strings: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: M. Cecilia Poli
raw_affiliation_strings: Program of Immunogenetics and Translational Immunology, Faculty of Medicine, Clínica Alemana-Universidad del Desarrollo, 7610658, Santiago, Chile
raw_author_name: Sebastian Ochoa
raw_affiliation_strings: Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA
William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, 77030, USA
raw_author_name: Ivan K. Chinn
raw_affiliation_strings: Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA
William T. Shearer Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, 77030, USA
raw_author_name: Anna Lindstrand
raw_affiliation_strings: Department of Clinical Genetics and Genomics, Karolinska University Hospital, 17176, Stockholm, Sweden
Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176, Stockholm, Sweden
raw_author_name: Jennifer E. Posey
raw_affiliation_strings: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Richard A. Gibbs
raw_affiliation_strings: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: Pengfei Liu
raw_affiliation_strings: Baylor Genetics, Houston, TX, 77021, USA
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX, 77030, USA
raw_author_name: James R. Lupski
raw_affiliation_strings: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu
Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu
Texas Children's Hospital, Houston, TX, 77030, USA. jlupski@bcm.edu
raw_author_name: Claudia M. B. Carvalho
raw_affiliation_strings: Pacific Northwest Research Institute, Seattle, WA, 98122, USA. ccarvalho@pnri.org