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VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Hum Genet. 2023 Apr;142(4):495-506. doi: 10.1007/s00439-023-02539-z. Epub 2023 Mar 7.
Hum Genet. 2023.
PMID: 36881176
Free PMC article.
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Iancu IF, Perea-Romero I, Núñez-Moreno G, de la Fuente L, Romero R, Ávila-Fernandez A, Trujillo-Tiebas MJ, Riveiro-Álvarez R, Almoguera B, Martín-Mérida I, Del Pozo-Valero M, Damián-Verde A, Cortón M, Ayuso C, Minguez P.
Iancu IF, et al.
Int J Mol Sci. 2022 Jul 29;23(15):8431. doi: 10.3390/ijms23158431.
Int J Mol Sci. 2022.
PMID: 35955564
Free PMC article.
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