{
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  "Package": "ZygosityPredictor",
  "Type": "Package",
  "Title": "Package for prediction of zygosity for variants/genes in NGS\ndata",
  "Version": "1.12.0",
  "Date": "2025-07-28",
  "Authors@R": "c(\nperson(\"Marco\", \"Rheinnecker\",\nemail=\"marco.rheinnecker@dkfz-heidelberg.de\",\nrole = c(\"aut\", \"cre\"),\ncomment=c(ORCID=\"0009-0009-7181-3977\")),\nperson(\"Marc\", \"Ruebsam\",\nrole = c(\"aut\")),\nperson(\"Daniel\", \"Huebschmann\",\nrole = c(\"aut\")),\nperson(\"Martina\", \"Froehlich\",\nrole = c(\"aut\")),\nperson(\"Barbara\", \"Hutter\",\nrole = c(\"aut\"))\n)",
  "License": "GPL-2",
  "Description": "The ZygosityPredictor allows to predict how many copies of\na gene are affected by small variants. In addition to the basic\ncalculations of the affected copy number of a variant, the\nZygosity-Predictor can integrate the influence of several\nvariants on a gene and ultimately make a statement if and how\nmany wild-type copies of the gene are left. This information\nproves to be of particular use in the context of translational\nmedicine. For example, in cancer genomes, the\nZygosity-Predictor can address whether unmutated copies of\ntumor-suppressor genes are present. Beyond this, it is possible\nto make this statement for all genes of an organism. The\nZygosity-Predictor was primarily developed to handle SNVs and\nINDELs (later addressed as small-variants) of somatic and\ngermline origin. In order not to overlook severe effects\noutside of the small-variant context, it has been extended with\nthe assessment of large scale deletions, which cause losses of\nwhole genes or parts of them.",
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  "Date/Publication": "2026-04-28 13:00:21 UTC",
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