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Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 3 |
2023 | 2 |
2024 | 1 |
Search Results
6 results
Results by year
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Page 1
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
Brief Bioinform. 2024 Jan 22;25(2):bbad508. doi: 10.1093/bib/bbad508.
Brief Bioinform. 2024.
PMID: 38271481
Free PMC article.
Review.
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM, Barbitoff YA, Nasykhova YA, Pachuliia OV, Lazareva TE, Bespalova ON, Glotov AS.
Maksiutenko EM, et al.
Int J Mol Sci. 2023 Dec 17;24(24):17572. doi: 10.3390/ijms242417572.
Int J Mol Sci. 2023.
PMID: 38139401
Free PMC article.
Review.
Item in Clipboard
Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.
Glotov OS, Chernov AN, Glotov AS.
Glotov OS, et al.
J Pers Med. 2023 Aug 8;13(8):1236. doi: 10.3390/jpm13081236.
J Pers Med. 2023.
PMID: 37623486
Free PMC article.
Review.
Item in Clipboard
Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.
Lazareva TE, Barbitoff YA, Changalidis AI, Tkachenko AA, Maksiutenko EM, Nasykhova YA, Glotov AS.
Lazareva TE, et al.
J Pers Med. 2022 Dec 9;12(12):2040. doi: 10.3390/jpm12122040.
J Pers Med. 2022.
PMID: 36556260
Free PMC article.
Review.
Item in Clipboard
Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia.
Koshevaya YS, Kusakin AV, Buchinskaia NV, Pechnikova VV, Serebryakova EA, Koroteev AL, Glotov AS, Glotov OS.
Koshevaya YS, et al.
Int J Mol Sci. 2022 Oct 18;23(20):12437. doi: 10.3390/ijms232012437.
Int J Mol Sci. 2022.
PMID: 36293294
Free PMC article.
Review.
Item in Clipboard
Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.
Barbitoff YA, Abasov R, Tvorogova VE, Glotov AS, Predeus AV.
Barbitoff YA, et al.
BMC Genomics. 2022 Feb 22;23(1):155. doi: 10.1186/s12864-022-08365-3.
BMC Genomics. 2022.
PMID: 35193511
Free PMC article.
Item in Clipboard
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