Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MAP2K2
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.
Sather R et al.
International Journal of Molecular Sciences, 2023
37446072 (PubMed )
Supplement: ijms-24-10895-s001.zip › ijms-2370890-supplementary.pdf
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
A KRAS wild type mutational status confers a survival advantage in pancreatic ductal adenocarcinoma.
Windon AL et al.
Journal of Gastrointestinal Oncology, 2018
The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.
Landau DA et al.
Nature Communications, 2017
29259203 (PubMed )
Supplement: 41467_2017_2329_MOESM6_ESM.xlsx › Supplementary_Data_4
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