Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls › GEDi_Diagnoses
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