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 › MSH2
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM1_ESM.xlsx › Variants_For_OddsPath
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Kaushik V et al.
Advanced Genetics (hoboken, N.j.), 2021
36618447 (PubMed )
Supplement: GGN2-2-e10039-s001.zip › Google_Scholar_and_Mastermind_Search_Data_-_for_Submission.xlsx › Google_Scholar___Mastermind
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary
Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.
Diefenbach RJ et al.
Cancers, 2019
31795494 (PubMed )
Supplement: cancers-11-01905-s001.zip › cancers-620854-final-supplementary › cancers-620854-final-supplementary_-.xlsx › Table_S2
Exome sequencing in 51 early onset non-familial CRC cases.
Thutkawkorapin J et al.
Molecular Genetics & Genomic Medicine, 2019
30809968 (PubMed )
Supplement: MGG3-7-e605-s002.xlsx › Supp_Table2__Missense_variants_
Genetic mapping of pancreatic cancer by targeted next-generation sequencing in a cohort of patients managed with nab-paclitaxel-based chemotherapy or agents targeting the EGFR axis: a retrospective analysis of the Hellenic Cooperative Oncology Group (HeCOG).
Zarkavelis G et al.
Esmo Open, 2019
31673425 (PubMed )
Supplement: esmoopen-2019-000525supp001.pdf
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2018
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
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