Phenotype-aware prioritisation of rare Mendelian disease variants.
Phenotype-aware prioritisation of rare Mendelian disease variants.
复制标题
DOI：
10.1016/j.tig.2022.07.002
复制
发表时间：
2022-12
影响因子：
11.4
通讯作者：
Cipriani, Valentina
中科院分区：
文献类型：
--
作者：
Kelly, Catherine;Szabo, Anita;Pontikos, Nikolas;Arno, Gavin;Robinson, Peter N.;Jacobsen, Jules O. B.;Smedley, Damian;Cipriani, Valentina
从罕见孟德尔病的测序数据分析的分子诊断对患者及其家属的管理有巨大的影响。已经开发了许多患者表型感知变异优先级（VP）工具来帮助自动化这一过程，并缩短诊断过程，但实际患者数据的性能统计数据有限。在这里，我们使用来自134名具有分子诊断的个体的全外显子组视网膜疾病数据集，识别、评估和比较所有最新、免费可用和可编程访问的工具的性能。所有工具都能识别出大约三分之二的基因诊断，其中LIRICAL的总体表现最好。最后，我们讨论了在当前最先进的实践之后克服大多数未诊断病例的挑战。
A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has a huge impact on the management of patients and their families. Numerous patient phenotype-aware variant prioritisation (VP) tools have been developed to help automate this process, and shorten the diagnostic odyssey, but performance statistics on real patient data are limited. Here we identify, assess, and compare the performance of all up-to-date, freely available, and programmatically accessible tools using a whole-exome, retinal disease dataset from 134 individuals with a molecular diagnosis. All tools were able to identify around two-thirds of the genetic diagnoses as the top-ranked candidate, with LIRICAL performing best overall. Finally, we discuss the challenges to overcome most cases remaining undiagnosed after current, state-of-the-art practices.
登录
查看更多内容
影响因子：
14.9
作者：
Holtgrewe, Manuel;Stolpe, Oliver;Beule, Dieter
通讯作者：
Beule, Dieter
影响因子：
3.9
作者：
Bosio, Mattia;Drechsel, Oliver;Ossowski, Stephan
通讯作者：
Ossowski, Stephan
影响因子：
3.5
作者：
Cipriani, Valentina;Pontikos, Nikolas;Smedley, Damian
通讯作者：
Smedley, Damian
影响因子：
9.5
作者：
通讯作者：
--
影响因子：
14.9
作者：
Köhler S;Gargano M;Matentzoglu N;Carmody LC;Lewis-Smith D;Vasilevsky NA;Danis D;Balagura G;Baynam G;Brower AM;Callahan TJ;Chute CG;Est JL;Galer PD;Ganesan S;Griese M;Haimel M;Pazmandi J;Hanauer M;Harris NL;Hartnett MJ;Hastreiter M;Hauck F;He Y;Jeske T;Kearney H;Kindle G;Klein C;Knoflach K;Krause R;Lagorce D;McMurry JA;Miller JA;Munoz-Torres MC;Peters RL;Rapp CK;Rath AM;Rind SA;Rosenberg AZ;Segal MM;Seidel MG;Smedley D;Talmy T;Thomas Y;Wiafe SA;Xian J;Yüksel Z;Helbig I;Mungall CJ;Haendel MA;Robinson PN
通讯作者：
Robinson PN