Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data
Xiao Chen, Alba Sanchis‐Juan, Courtney E. French…·Michael A. Eberle
This paper develops a method to accurately determine SMN1 and SMN2 copy numbers from whole-genome sequencing data, enabling SMA diagnosis and carrier screening with high precision and recall.
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