Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

N Weisschuh, P Mazzola, T Zuleger… - Journal of medical …, 2024 - jmg.bmj.com
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

N Weisschuh, P Mazzola, T Zuleger… - Journal of Medical …, 2023 - search.proquest.com
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

N Weisschuh, P Mazzola, T Zuleger… - Journal of medical …, 2024 - pubmed.ncbi.nlm.nih.gov
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses' beyond …

[HTML][HTML] Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

N Weisschuh, P Mazzola, T Zuleger… - Journal of Medical …, 2023 - jmg.bmj.com
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

[HTML][HTML] Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

N Weisschuh, P Mazzola, T Zuleger… - Journal of Medical …, 2024 - ncbi.nlm.nih.gov
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

N Weisschuh, P Mazzola, T Zuleger… - Journal of Medical …, 2024 - europepmc.org
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses' beyond …

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

N Weisschuh, P Mazzola, T Zuleger… - Journal of Medical …, 2023 - europepmc.org
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses' beyond …