Raymond H. Kim

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease

The paper describes the development of variant classification specifications for the VHL gene using ACMG/AMP guidelines, resulting in updated evidence codes and improved classification consistency.

Integrated analysis of cell-free DNA for the early detection of cancer in people with Li-Fraumeni Syndrome

This study evaluates an integrated liquid biopsy approach for early cancer detection in Li-Fraumeni syndrome patients, showing improved detection rates compared to individual methods.

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

GeneTerpret streamlines genomic variant interpretation by integrating multiple data sources and ACMG criteria to prioritize potentially causal variants for a given genome and phenotype.

Evolution of the open-access CIViC knowledgebase is driven by the needsof the cancer variant interpretation community

The paper describes the evolution of the CIViC knowledgebase to meet the needs of the cancer variant interpretation community by expanding its functionality and data types.

Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences

This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.

The CIViC knowledge model and standard operating procedures for curation and clinical interpretation of variants in cancer

The paper describes the CIViC knowledge model and curation procedures for systematically organizing and interpreting cancer-related genetic variants.