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
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM et al.
Genome Research, 2024
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P et al.
Ebiomedicine, 2024
39191170 (PubMed )
Supplement: mmc1.pdf
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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