Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.
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DOI：
10.3389/fgene.2021.674295
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发表时间：
2021
影响因子：
3.7
通讯作者：
O'Donnell-Luria A
中科院分区：
文献类型：
--
作者：
Seaby EG;Rehm HL;O'Donnell-Luria A
罕见的遗传性疾病，虽然个别罕见，但集体常见。它们代表了影响全球患者的一些最严重的疾病，具有显著的发病率和死亡率。在过去的十年中，基因组方法的进步显着提高了患者的诊断率，并促进了新的靶向治疗。然而，许多患有罕见遗传疾病的患者仍然未被诊断，因为迄今为止仅发现了一部分孟德尔疾病的遗传病因。本文探讨了现有的策略，以确定新的孟德尔基因，以及这些发现如何影响临床护理和治疗。我们讨论了数据共享的重要性，表型驱动的方法，患者主导的方法，利用大规模基因组测序项目，基于约束的方法，多组学数据的整合，和基因对患者的方法。我们进一步考虑了新基因发现的健康经济优势，并推测了未来改善临床结果的潜在方法。
Rare genetic disorders, while individually rare, are collectively common. They represent some of the most severe disorders affecting patients worldwide with significant morbidity and mortality. Over the last decade, advances in genomic methods have significantly uplifted diagnostic rates for patients and facilitated novel and targeted therapies. However, many patients with rare genetic disorders still remain undiagnosed as the genetic etiology of only a proportion of Mendelian conditions has been discovered to date. This article explores existing strategies to identify novel Mendelian genes and how these discoveries impact clinical care and therapeutics. We discuss the importance of data sharing, phenotype-driven approaches, patient-led approaches, utilization of large-scale genomic sequencing projects, constraint-based methods, integration of multi-omics data, and gene-to-patient methods. We further consider the health economic advantages of novel gene discovery and speculate on potential future methods for improved clinical outcomes.
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影响因子：
64.8
作者：
Bycroft C;Freeman C;Petkova D;Band G;Elliott LT;Sharp K;Motyer A;Vukcevic D;Delaneau O;O'Connell J;Cortes A;Welsh S;Young A;Effingham M;McVean G;Leslie S;Allen N;Donnelly P;Marchini J
通讯作者：
Marchini J
影响因子：
16.6
作者：
Bowl MR;Simon MM;Ingham NJ;Greenaway S;Santos L;Cater H;Taylor S;Mason J;Kurbatova N;Pearson S;Bower LR;Clary DA;Meziane H;Reilly P;Minowa O;Kelsey L;International Mouse Phenotyping Consortium;Tocchini-Valentini GP;Gao X;Bradley A;Skarnes WC;Moore M;Beaudet AL;Justice MJ;Seavitt J;Dickinson ME;Wurst W;de Angelis MH;Herault Y;Wakana S;Nutter LMJ;Flenniken AM;McKerlie C;Murray SA;Svenson KL;Braun RE;West DB;Lloyd KCK;Adams DJ;White J;Karp N;Flicek P;Smedley D;Meehan TF;Parkinson HE;Teboul LM;Wells S;Steel KP;Mallon AM;Brown SDM
通讯作者：
Brown SDM
影响因子：
8.8
作者：
Aicher, Joseph K.;Jewell, Paul;Bhoj, Elizabeth J.
通讯作者：
Bhoj, Elizabeth J.
影响因子：
9.8
作者：
Beck, David B.;Petracovici, Ana;Fahrner, Jill A.
通讯作者：
Fahrner, Jill A.
影响因子：
9.8
作者：
Brechtmann, Felix;Mertes, Christian;Gagneur, Julien
通讯作者：
Gagneur, Julien