Associated Papers
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5
Case report: Target and immunotherapy of a lung adenocarcinoma with enteric differentiation, EGFR mutation, and high microsatellite instability.
Yang M et al.
Frontiers in Immunology, 2023
38332908 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Nationwide evaluation of mutation-tailored treatment of gastrointestinal stromal tumors in daily clinical practice.
Steeghs EMP et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2021
33909171 (PubMed )
Supplement: 10120_2021_1190_MOESM2_ESM.xlsx › Sup._Table_2
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 › Every_test
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
Analytical Evaluation of an NGS Testing Method for Routine Molecular Diagnostics on Melanoma Formalin-Fixed, Paraffin-Embedded Tumor-Derived DNA.
Mancini I et al.
Diagnostics (basel, Switzerland), 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table
Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.
Raskin L et al.
Oncotarget, 2017
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015
25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf
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