Associated Papers
The Great Genotyper: a graph-based method for population genotyping of small and structural variants.
Shokrof M et al.
Gigascience, 2025
41041811 (PubMed )
Supplement: giaf112_supplemental_files.zip › Supplementary_table_3.xlsx › case_study
Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.
Xue J et al.
Bmc Medical Genomics, 2024
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