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1973 1
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Filters applied: . Clear all The following term was not found in PubMed: Pismeniuk
Page 1
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. J Biomed Inform. 2022 Sep;133:104174. doi: 10.1016/j.jbi.2022.104174. Epub 2022 Aug 23. J Biomed Inform. 2022. PMID: 35998814
Lastly, most of the software tools score low on explainability amongst clinicians. We have created a fully open-source variant curation tool, AnFiSA, with the intention to invite and accept contributions from clinicians, researchers, and professional software developers. . …
Lastly, most of the software tools score low on explainability amongst clinicians. We have created a fully open-source variant curation tool …
[In memoriam: Anfisa Ivanovna Bykova].
[No authors listed] [No authors listed] Oftalmol Zh. 1973;28(8):637. Oftalmol Zh. 1973. PMID: 4596915 Russian. No abstract available.
Posterior pole retinal tears following blunt ocular trauma.
Ayalon A, Okrent L, Rubowitz A. Ayalon A, et al. Am J Ophthalmol Case Rep. 2020 Feb 29;18:100642. doi: 10.1016/j.ajoc.2020.100642. eCollection 2020 Jun. Am J Ophthalmol Case Rep. 2020. PMID: 32154440 Free PMC article.