Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
GA4GH Phenopacket
HPO
fetal pathology
human phenotype ontology
prenatal diagnosis
prenatal phenotyping
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
received:
14
04
2022
accepted:
01
07
2022
pubmed:
26
7
2022
medline:
21
10
2022
entrez:
25
7
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35872606
doi: 10.1002/ajmg.c.31989
pmc: PMC9588534
mid: NIHMS1821345
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
231-242Subventions
Organisme : NICHD NIH HHS
ID : K12 HD001262
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD107190
Pays : United States
Organisme : NIH HHS
ID : R24 OD011883
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG011449
Pays : United States
Organisme : British Heart Foundation
ID : FS/18/79/33932
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : T32 GM007748
Pays : United States
Informations de copyright
© 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.
Références
Ultrasound Obstet Gynecol. 2021 Oct;58(4):509-518
pubmed: 33847422
Eur J Hum Genet. 2017 Dec;25(12):1293-1302
pubmed: 29158551
N Engl J Med. 2012 Dec 6;367(23):2175-84
pubmed: 23215555
NPJ Genom Med. 2018 Jul 9;3:16
pubmed: 30002876
Prenat Diagn. 2022 May;42(6):662-685
pubmed: 35170059
JAMA Pediatr. 2017 Dec 4;171(12):e173438
pubmed: 28973083
Am J Hum Genet. 2020 Sep 3;107(3):403-417
pubmed: 32755546
J Med Genet. 2014 Nov;51(11):766-772
pubmed: 25280750
PLoS One. 2012;7(6):e38937
pubmed: 22719993
N Engl J Med. 2021 Nov 11;385(20):1868-1880
pubmed: 34758253
Am J Hum Genet. 2016 Sep 1;99(3):595-606
pubmed: 27569544
Am J Hum Genet. 2008 Nov;83(5):610-5
pubmed: 18950739
Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242
pubmed: 35872606
Nucleic Acids Res. 2020 Jan 8;48(D1):D704-D715
pubmed: 31701156
BJOG. 2021 Aug;128(9):e39-e50
pubmed: 33590639
Cell Genom. 2021 Nov 10;1(2):
pubmed: 35072136
Am J Hum Genet. 2009 Oct;85(4):457-64
pubmed: 19800049
Hum Mutat. 2015 Oct;36(10):979-84
pubmed: 26269093
Lancet. 2019 Feb 23;393(10173):758-767
pubmed: 30712878
Arch Gynecol Obstet. 2022 Feb;305(2):323-342
pubmed: 34145474
PLoS Biol. 2009 Nov;7(11):e1000247
pubmed: 19956802
Prenat Diagn. 2018 Jan;38(1):10-19
pubmed: 28654730
Mol Genet Genomic Med. 2021 May;9(5):e1649
pubmed: 33733630
J Med Internet Res. 2019 Jul 03;21(7):e14286
pubmed: 31271152
Am J Hum Genet. 1991 Nov;49(5):995-1013
pubmed: 1928105
PLoS One. 2013;8(1):e53490
pubmed: 23308235
Nat Rev Nephrol. 2020 Nov;16(11):686-696
pubmed: 32939051
PLoS Genet. 2014 Apr 03;10(4):e1004268
pubmed: 24699242
Nat Biotechnol. 2022 Jun;40(6):817-820
pubmed: 35705716
Fetal Diagn Ther. 2009;26(2):61-7
pubmed: 19752522
Ultrasound Obstet Gynecol. 2021 Jan;57(1):43-51
pubmed: 32388881
Pediatrics. 2015 Jun;135(6):1115-25
pubmed: 25941306
Nat Genet. 2017 Aug;49(8):1231-1238
pubmed: 28650483
Genome Res. 2014 Feb;24(2):340-8
pubmed: 24162188
Med Ultrason. 2022 Aug 31;24(3):364-368
pubmed: 35045142
Cell. 2012 Apr 27;149(3):525-37
pubmed: 22521361
Obstet Gynecol. 2013 Dec;122(6):1160-7
pubmed: 24201688
NPJ Genom Med. 2018 Apr 4;3:10
pubmed: 29644095
Best Pract Res Clin Obstet Gynaecol. 2014 Apr;28(3):341-53
pubmed: 24355991
Nat Commun. 2020 Jan 31;11(1):655
pubmed: 32005800
Ultrasound Obstet Gynecol. 2022 Jun;59(6):723-730
pubmed: 34940998
Lancet. 2019 Feb 23;393(10173):747-757
pubmed: 30712880
Fetal Diagn Ther. 2021 Feb 5;:1-8
pubmed: 33550297
N Engl J Med. 2020 Sep 17;383(12):1107-1116
pubmed: 32786180
Am J Hum Genet. 2019 Oct 3;105(4):719-733
pubmed: 31564432
Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876
pubmed: 27899602
NAR Genom Bioinform. 2020 Jun;2(2):lqaa032
pubmed: 32500119
Nature. 2016 Sep 22;537(7621):508-514
pubmed: 27626380
Clin Genet. 2014 Sep;86(3):220-8
pubmed: 24128419
Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027
pubmed: 30476213
Prenat Diagn. 2019 Aug;39(9):811-817
pubmed: 31330568
Prenat Diagn. 2015 Oct;35(10):1005-9
pubmed: 25046514
J Allergy Clin Immunol Pract. 2020 May;8(5):1778
pubmed: 32389282
Ultrasound Obstet Gynecol. 2013 Jun;41(6):610-20
pubmed: 23512800
Bioinformatics. 2012 Oct 1;28(19):2502-8
pubmed: 22843981
Hum Mutat. 2012 May;33(5):777-80
pubmed: 22504886
N Engl J Med. 2020 Oct 29;383(18):1746-1756
pubmed: 33027564
Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217
pubmed: 33264411
J Allergy Clin Immunol. 2022 Jan;149(1):369-378
pubmed: 33991581
Dis Model Mech. 2013 May;6(3):571-9
pubmed: 23519032
Eur J Hum Genet. 2021 Sep;29(9):1325-1331
pubmed: 34075208
N Engl J Med. 2018 Oct 11;379(15):1452-1462
pubmed: 30304648
Genet Med. 2017 Nov;19(11):1207-1216
pubmed: 28518170
BJOG. 2021 Jan;128(2):259-269
pubmed: 32790134
Nat Protoc. 2015 Dec;10(12):2004-15
pubmed: 26562621
Epilepsia. 2021 Jun;62(6):1293-1305
pubmed: 33949685
Eur J Med Genet. 2018 Nov;61(11):706-714
pubmed: 29425702
PLoS Biol. 2015 Jan 06;13(1):e1002033
pubmed: 25562316
Prenat Diagn. 2022 Jun;42(7):807-810
pubmed: 35661204
Nat Genet. 2004 Apr;36(4):323-4
pubmed: 15054484
Genet Med. 2016 Jun;18(6):608-17
pubmed: 26562225
F1000Res. 2013 Feb 01;2:30
pubmed: 24358873
BMC Bioinformatics. 2011 Nov 12;12:441
pubmed: 22078312
Ultrasound Obstet Gynecol. 2013 Jan;41(1):102-13
pubmed: 23280739
Front Med (Lausanne). 2017 May 26;4:62
pubmed: 28603714
Dis Model Mech. 2013 Mar;6(2):358-72
pubmed: 23104991
Genet Med. 2018 Nov;20(11):1430-1437
pubmed: 29595812
Obstet Gynecol Clin North Am. 2017 Jun;44(2):245-256
pubmed: 28499534
NAR Genom Bioinform. 2021 Sep 03;3(3):lqab078
pubmed: 34514393