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An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Schwartz A, Manning DK, Koeller DR, Chittenden A, Isidro RA, Hayes CP, Abraamyan F, Manam MD, Dwan M, Barletta JA, Sholl LM, Yurgelun MB, Rana HQ, Garber JE, Ghazani AA. Schwartz A, et al. Among authors: abraamyan f. Front Oncol. 2022 Aug 25;12:942741. doi: 10.3389/fonc.2022.942741. eCollection 2022. Front Oncol. 2022. PMID: 36091175 Free PMC article.
AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
Bouzinier MA, Etin D, Trifonov SI, Evdokimova VN, Ulitin V, Shen J, Kokorev A, Ghazani AA, Chekaluk Y, Albertyn Z, Giersch A, Morton CC, Abraamyan F, Bendapudi PK, Sunyaev S, Undiagnosed Diseases Network, Brigham Genomic Medicine, SEQuencing A Baby For An Optimal Outcome, Quantori, Krier JB. Bouzinier MA, et al. Among authors: abraamyan f. J Biomed Inform. 2022 Sep;133:104174. doi: 10.1016/j.jbi.2022.104174. Epub 2022 Aug 23. J Biomed Inform. 2022. PMID: 35998814 Free article.
An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants.
Koeller DR, Manning DK, Schwartz A, Chittenden A, Hayes CP, Abraamyan F, Rana HQ, Lindeman NI, Garber JE, Ghazani AA. Koeller DR, et al. Among authors: abraamyan f. MethodsX. 2022 Jun 18;9:101761. doi: 10.1016/j.mex.2022.101761. eCollection 2022. MethodsX. 2022. PMID: 35774415 Free PMC article.