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Image Search Results
Journal: International Journal of Molecular Sciences
Article Title: Identification of Actionable Gene Variants in Pulmonary Large-Cell Neuroendocrine Carcinoma: A Real-World Analysis of a Polish Cohort
doi: 10.3390/ijms27072939
Figure Lengend Snippet: The graphic representation of TMEM79::NTRK1 fusion, including exonic (TMEM79 NM_032323.3 exon 3; NTRK1 NM_002529.3 exon 2) and chromosomal (chr1:156256264, chr1:156834146) breakpoint positions based on the output data from the Archer Analysis software version 7.2 (ArcherDX, Inc., Boulder, CO, USA; ( A )) and on the variant visualization by the Alamut Visual Plus v1.12 software (SOPHiA GENETICS, Inc., Boston, MA, USA; ( B )).
Article Snippet: Gene fusion variants were further evaluated using
Techniques: Software, Variant Assay
Journal: Genes
Article Title: Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2
doi: 10.3390/genes14020502
Figure Lengend Snippet: Alamut TM Visual Plus Splicing Predictions. Reference (wild type) and mutated sequences are displayed, and splicing predictions are reported above and under each one. Exons are represented with blue boxes. Hits from SpliceSiteFinder-like, MaxEntScan, NNSPLICE and GeneSplicer are displayed as blue vertical bars for 5′ (donor) sites, and as green vertical bars for 3′ (acceptor) sites. The height of each bar is proportional to the maximum possible score computed by the corresponding algorithm. Known constitutive signals are displayed as small blue (5′) or green (3′) triangles, close to the sequence letters.
Article Snippet: They were consulted through
Techniques: Sequencing