Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
Sign Up to like & getrecommendations! Published in 2019 at "Genome research"
DOI: 10.1101/gr.250357.119
Abstract: Variant interpretation in the era of massively parallel sequencing is challenging. Although many resources and guidelines are available to assist with this task, few integrated end-to-end tools exist. Here, we present the Pediatric Cancer Variant… read more here.
Keywords: pecanpie; pediatric cancer; variant pathogenicity; cancer variant ... See more keywords
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106096
Abstract: Background Pathogenic variants in mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2) increase risk for Lynch syndrome and related cancers. We quantified tumour characteristics to assess variant pathogenicity for germline MMR genes. Methods Among… read more here.
Keywords: tumour characteristics; evidence; variant pathogenicity; missense ... See more keywords