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
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Herbst C et al.
Human Genetics, 2024
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
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