Associated Papers
Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.
Ng HY et al.
Hgg Advances, 2025
40528347 (PubMed )
Supplement: mmc2.pdf
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Wang Y et al.
Human Genomics, 2025
39810276 (PubMed )
Supplement: 40246_2024_696_MOESM1_ESM.xlsx › Table_S1-two_methods
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