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Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-10-01 , DOI: 10.1038/gim.2017.246 Caroline F Wright 1, 2 , Jeremy F McRae 1 , Stephen Clayton 1 , Giuseppe Gallone 1 , Stuart Aitken 3 , Tomas W FitzGerald 1 , Philip Jones 1 , Elena Prigmore 1 , Diana Rajan 1 , Jenny Lord 1 , Alejandro Sifrim 1 , Rosemary Kelsell 1 , Michael J Parker 4 , Jeffrey C Barrett 1 , Matthew E Hurles 1 , David R FitzPatrick 4 , Helen V Firth 1, 5 ,
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-10-01 , DOI: 10.1038/gim.2017.246 Caroline F Wright 1, 2 , Jeremy F McRae 1 , Stephen Clayton 1 , Giuseppe Gallone 1 , Stuart Aitken 3 , Tomas W FitzGerald 1 , Philip Jones 1 , Elena Prigmore 1 , Diana Rajan 1 , Jenny Lord 1 , Alejandro Sifrim 1 , Rosemary Kelsell 1 , Michael J Parker 4 , Jeffrey C Barrett 1 , Matthew E Hurles 1 , David R FitzPatrick 4 , Helen V Firth 1, 5 ,
Affiliation
Given the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new knowledge.
中文翻译：
使用旧数据进行新的基因诊断：从 1,133 个发育障碍家庭的全基因组数据中进行迭代再分析和报告。
鉴于罕见病基因组学的快速发现，通过根据新知识系统地重新分析先前生成的基因组序列数据，可能会提高诊断率。
更新日期：2018-01-12
中文翻译：
使用旧数据进行新的基因诊断：从 1,133 个发育障碍家庭的全基因组数据中进行迭代再分析和报告。
鉴于罕见病基因组学的快速发现，通过根据新知识系统地重新分析先前生成的基因组序列数据，可能会提高诊断率。
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