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Abstract：
When deciding on which genes to assess in larger Next-Generation Sequencing (NGS) datasets for the molecular genetic diagnosis of intellectual disability (ID), geneticists today have a variety of gene-phenotype databases and expert-curated gene lists available. To quantify their respective completeness, we compare an ID gene selection auto-generated from the Human Phenotype Ontology gene-phenotype association database and expert-curated ID gene lists from three reputable sources (sysID, the DDD consortium and Genomics England) and analyse some of their differences. We give examples of what we regard as genuine gaps (\"missing ID genes\") for each of these and conclude that a complementary or consensus approach is needed to maximise diagnostic yield in ID patients. We propose several consensus gene lists with ID-associated genes of different confidence levels.
摘要：
在决定在更大的下一代测序（NGS）数据集中评估哪些基因用于智力障碍（ID）的分子遗传诊断时，如今，遗传学家拥有各种基因表型数据库和专家策划的基因列表。为了量化它们各自的完整性，我们比较了从人类表型本体基因-表型关联数据库自动生成的ID基因选择和来自三个信誉良好的来源(sysID，DDD联盟和GenomicsEngland)，并分析了它们的一些差异。我们给出了我们认为每个人的真正差距（“缺失ID基因”）的例子，并得出结论，需要一种补充或共识的方法来最大化ID患者的诊断产量。我们提出了几个具有不同置信水平的ID相关基因的共有基因列表。
