Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
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小儿和产前外显子组测序的诊断产量在多样化的人群中。
DOI：
10.1038/s41525-023-00353-0
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发表时间：
2023-05-26
影响因子：
5.3
通讯作者：
Norton, Mary E.
中科院分区：
文献类型：
--
作者：
Slavotinek, Anne;Rego, Shannon;Sahin-Hodoglugil, Nuriye;Kvale, Mark;Lianoglou, Billie;Yip, Tiffany;Hoban, Hannah;Outram, Simon;Anguiano, Beatrice;Chen, Flavia;Michelson, Jeremy;Cilio, Roberta M.;Curry, Cynthia;Gallagher, Renata C.;Gardner, Marisa;Kuperman, Rachel;Mendelsohn, Bryce;Sherr, Elliott;Shieh, Joseph;Strober, Jonathan;Tam, Allison;Tenney, Jessica;Weiss, William;Whittle, Amy;Chin, Garrett;Faubel, Amanda;Prasad, Hannah;Mavura, Yusuph;Van Ziffle, Jessica;Devine, W. Patrick;Hodoglugil, Ugur;Martin, Pierre-Marie;Sparks, Teresa N.;Koenig, Barbara;Ackerman, Sara;Risch, Neil;Kwok, Pui-Yan;Norton, Mary E.
外显子组测序（ES）的诊断率主要在欧洲血统的个体中进行评估，较少关注代表性不足的少数民族（URM）和服务不足（US）患者。我们在一组主要为US和URM的怀疑有遗传性疾病的儿科和产前患者中评估了ES的诊断率。符合条件的儿科患者患有多种先天性异常和/或神经认知障碍，产前患者患有一种或多种结构异常、胎儿生长障碍或胎儿积液。URM和US患者优先入组，并在单个学术中心接受ES。我们在201/845（23.8%）例患者中确定了明确的阳性或可能的阳性结果，与产前患者（19.0%）相比，儿科患者（26.7%）的诊断率显著更高（P = 0.01）。对于儿科和产前患者，URM和非URM患者之间或US状态患者和非US状态患者之间的诊断率和不确定结果的频率没有显著差异。我们的研究结果表明，产前和儿科URM/US患者和非URM/US患者之间的ES阳性和不确定结果的诊断率相似。这些数据支持使用ES来识别来自不同人群的患者中的临床相关变异。
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a cohort of predominantly US and URM pediatric and prenatal patients suspected to have a genetic disorder. Eligible pediatric patients had multiple congenital anomalies and/or neurocognitive disabilities and prenatal patients had one or more structural anomalies, disorders of fetal growth, or fetal effusions. URM and US patients were prioritized for enrollment and underwent ES at a single academic center. We identified definitive positive or probable positive results in 201/845 (23.8%) patients, with a significantly higher diagnostic rate in pediatric (26.7%) compared to prenatal patients (19.0%) (P = 0.01). For both pediatric and prenatal patients, the diagnostic yield and frequency of inconclusive findings did not differ significantly between URM and non-URM patients or between patients with US status and those without US status. Our results demonstrate a similar diagnostic yield of ES between prenatal and pediatric URM/US patients and non-URM/US patients for positive and inconclusive results. These data support the use of ES to identify clinically relevant variants in patients from diverse populations.
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影响因子：
4.6
作者：
Pode-Shakked B;Barel O;Singer A;Regev M;Poran H;Eliyahu A;Finezilber Y;Segev M;Berkenstadt M;Yonath H;Reznik-Wolf H;Gazit Y;Chorin O;Heimer G;Gabis LV;Tzadok M;Nissenkorn A;Bar-Yosef O;Zohar-Dayan E;Ben-Zeev B;Mor N;Kol N;Nayshool O;Shimshoviz N;Bar-Joseph I;Marek-Yagel D;Javasky E;Einy R;Gal M;Grinshpun-Cohen J;Shohat M;Dominissini D;Raas-Rothschild A;Rechavi G;Pras E;Greenbaum L
通讯作者：
Greenbaum L
DOI：
10.1097/gim.0b013e3181f8baad
发表时间：
2010-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Manning M;Hudgins L;Professional Practice and Guidelines Committee
通讯作者：
Professional Practice and Guidelines Committee
影响因子：
3.2
作者：
Jooma, Sonya;Hahn, Michael J.;Bonham, Vence L.
通讯作者：
Bonham, Vence L.
影响因子：
12.3
作者：
Kingsmore, Stephen F.;Lantos, John D.;Saunders, Carol J.
通讯作者：
Saunders, Carol J.
影响因子：
168.9
作者：
Petrovski, Slave;Aggarwal, Vimla;Wapner, Ronald J.
通讯作者：
Wapner, Ronald J.