Associated Papers
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.
Dawood M et al.
Genome Medicine, 2024
39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S19
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 › PTEN
Classification of PTEN missense VUS through exascale simulations.
Sinha S et al.
Briefings in Bioinformatics, 2023
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
34492006 (PubMed )
Supplement: pgen.1009774.s010.xlsx › Annotation_of_PTEN_variants
Mutational and gene fusion analyses of primary large cell and large cell neuroendocrine lung cancer.
Karlsson A et al.
Oncotarget, 2015
26124082 (PubMed )
Supplement: oncotarget-06-22028-s003.xlsx › Variants_in_Lund_cohort
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
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