Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
复制标题
DOI：
10.1002/ajmg.c.31989
复制
发表时间：
2022-06
影响因子：
3.1
通讯作者：
Robinson, Peter N.
中科院分区：
文献类型：
--
作者：
Dhombres, Ferdinand;Morgan, Patricia;Chaudhari, Bimal P.;Filges, Isabel;Sparks, Teresa N.;Lapunzina, Pablo;Roscioli, Tony;Agarwal, Umber;Aggarwal, Shagun;Beneteau, Claire;Cacheiro, Pilar;Carmody, Leigh C.;Collardeau-Frachon, Sophie;Dempsey, Esther A.;Dufke, Andreas;Duyzend, Michael Henri;el Ghosh, Mirna;Giordano, Jessica L.;Glad, Ragnhild;Grinfelde, Ieva;Iliescu, Dominic G.;Ladewig, Markus S.;Munoz-Torres, Monica C.;Pollazzon, Marzia;Radio, Francesca Clementina;Rodo, Carlota;Silva, Raquel Gouveia;Smedley, Damian;Sundaramurthi, Jagadish Chandrabose;Toro, Sabrina;Valenzuela, Irene;Vasilevsky, Nicole A.;Wapner, Ronald J.;Zemet, Roni;Haendel, Melissa A.;Robinson, Peter N.
关键词：
基因组测序和产前成像的技术进步正在提高我们在产前准确识别和诊断孟德尔疾病的能力。表型驱动的胎儿遗传疾病的早期遗传诊断可以帮助制定围产期的治疗方案和临床预防措施，计划子宫内治疗，并告知父母决策。遗传疾病的胎儿表型往往是独特的，目前还没有得到很好的理解;更全面的知识产前表型和计算资源有巨大的潜力，以改善诊断和转化研究。人类表型本体（HPO）已被广泛用于支持人类遗传学的诊断和转化研究。为了更好地支持产前使用，HPO联盟与一组医学专业领域的专家进行了一系列研讨会，诊断技术，以及与产前医学相关的疾病和表型，包括围产期病理学，肌肉骨骼异常，神经病学，医学遗传学，胎儿水肿，颅面畸形，心脏病学，新生儿-围产期医学，胎儿医学，胎盘病理学，产前成像和生物信息学。我们通过在产前发育或出生异常（HP：0001197）分组术语下添加95个新的表型术语，并修订了在这项工作开始之前存在的152个术语中的大多数的定义，同义词和疾病注释，扩展了HPO中产前表型的表示。HPO中产前表型的扩展将支持表型驱动的产前外显子组和基因组测序，用于罕见疾病的精确遗传诊断，以支持产前护理。
Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype‐driven early genetic diagnosis of fetal genetic disease can help to strategize treatment options and clinical preventive measures during the perinatal period, to plan in utero therapies, and to inform parental decision‐making. Fetal phenotypes of genetic diseases are often unique and at present are not well understood; more comprehensive knowledge about prenatal phenotypes and computational resources have an enormous potential to improve diagnostics and translational research. The Human Phenotype Ontology (HPO) has been widely used to support diagnostics and translational research in human genetics. To better support prenatal usage, the HPO consortium conducted a series of workshops with a group of domain experts in a variety of medical specialties, diagnostic techniques, as well as diseases and phenotypes related to prenatal medicine, including perinatal pathology, musculoskeletal anomalies, neurology, medical genetics, hydrops fetalis, craniofacial malformations, cardiology, neonatal‐perinatal medicine, fetal medicine, placental pathology, prenatal imaging, and bioinformatics. We expanded the representation of prenatal phenotypes in HPO by adding 95 new phenotype terms under the Abnormality of prenatal development or birth (HP:0001197) grouping term, and revised definitions, synonyms, and disease annotations for most of the 152 terms that existed before the beginning of this effort. The expansion of prenatal phenotypes in HPO will support phenotype‐driven prenatal exome and genome sequencing for precision genetic diagnostics of rare diseases to support prenatal care.
登录
查看更多内容
影响因子：
3.7
作者：
Fujikura K;Setsu T;Tanigaki K;Abe T;Kiyonari H;Terashima T;Sakisaka T
通讯作者：
Sakisaka T
影响因子：
3
作者：
Best S;Wou K;Vora N;Van der Veyver IB;Wapner R;Chitty LS
通讯作者：
Chitty LS
影响因子：
2
作者：
García-Santiago FA;Martínez-Payo C;Mansilla E;Santos-Simarro F;Ruiz de Azua Ballesteros M;Mori MÁ;Antolín Alvarado E;Nieto Y;Vallcorba I;Tenorio J;Nevado J;Lapunzina P
通讯作者：
Lapunzina P
影响因子：
8.8
作者：
Chandler, Natalie;Best, Sunayna;Chitty, Lyn S.
通讯作者：
Chitty, Lyn S.
影响因子：
4.3
作者：
Doelken SC;Köhler S;Mungall CJ;Gkoutos GV;Ruef BJ;Smith C;Smedley D;Bauer S;Klopocki E;Schofield PN;Westerfield M;Robinson PN;Lewis SE
通讯作者：
Lewis SE