Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and mediating genes for more than half such disorders remain to be discovered. We implemented whole-

NIAID Data Ecosystem50

Additional file 3 of Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

罕见病基因组诊断

基因变异分析

Additional file 3: Table S7. List of genes and variants reported in cases.

Figshare2021-03-17 更新40

Structural and Non-Coding Variants Increase the Diagnostic Yield of Clinical Whole Genome Sequencing for Rare Diseases

罕见病基因组诊断

基因组变异分析

Although whole genome sequencing is increasingly used for the diagnosis of patients with rare disease, diagnostic yields often disappointingly low. We undertook WGS on a cohort of 122 unrelated RD pat

NIAID Data Ecosystem30

Additional file 3 of Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

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Additional file 3 of Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

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