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
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Kopp J et al.
Human Genetics, 2024
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