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Showing 1 - 8 results of 8 for search '"Variant classification"', query time: 0.07s Refine Results
  1. 1
    HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer

    HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer by Anna-Lena Katzke, Marvin Doebel, Jan Hauke, Gunnar Schmidt, Marc Sturm

    Published 2025-07-01
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  2. 2
    Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

    Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes by Tobias Brünger, Alina Ivaniuk, Eduardo Pérez-Palma, Ludovica Montanucci, Stacey Cohen, Lacey Smith, Shridhar Parthasarathy, Ingo Helbig, Michael Nothnagel, Patrick May, Dennis Lal

    Published 2025-07-01
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  3. 3
    Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions

    Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions by Jee Yeon Heo, Ju Han Kim

    Published 2025-07-01
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  4. 4
    Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer

    Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer by Ella A. Eklund, Johanna Svensson, Louise Stauber Näslund, Maria Yhr, Sama I. Sayin, Clotilde Wiel, Levent M. Akyürek, Per Torstensson, Volkan I. Sayin, Andreas Hallqvist, Sukanya Raghavan, Anna Rohlin

    Published 2025-02-01
    Subjects: “…Variant classification…”
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  5. 5
    Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

    Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53 by Cristina Fortuno, Marcy E. Richardson, Tina Pesaran, Kelly McGoldrick, Paul A. James, Amanda B. Spurdle

    Published 2025-10-01
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  6. 6
    Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

    Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance by Amina Kurtovic-Kozaric, Lejla Delalic, Belma Mutapcic, Lejla Comor, Eric Siciliano, Mark J. Kiel

    Published 2024-12-01
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  7. 7
    Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination

    Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination by Ditte K. Rasmussen, Young Joo Sun, Joel A. Franco, Aarushi Kumar, Jennifer T. Vu, Alexander G. Bassuk, Vinit B. Mahajan

    Published 2025-05-01
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  8. 8
    Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very–Long‐Chain Acyl‐CoA Dehydrogenase Deficiency Patient

    Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very–Long‐Chain Acyl‐CoA Dehydrogenase Deficiency Patient by Qin Wang, Jingxin Yang, Yong Xu, Xingping Li, Nan Jiang, Jiansheng Xie

    Published 2025-07-01
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