Global research landscape on the contribution of de novo mutations to human genetic diseases over the past 20 years: bibliometric analysis

被引:0
作者
Guan, Jing [1 ,2 ,3 ]
Wu, Xiaonan [1 ,2 ,3 ]
Zhang, Jiao [1 ,2 ,3 ]
Li, Jin [1 ,2 ,3 ]
Wang, Hongyang [1 ,2 ,3 ]
Wang, Qiuju [1 ,2 ,3 ]
机构
[1] Sixth Med Ctr PLA Gen Hosp, Sr Dept Otolaryngol Head & Neck Surg, Fucheng Rd 6, Beijing 100048, Peoples R China
[2] Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China
[3] State Key Lab Hearing & Balance Sci, Beijing, Peoples R China
基金
中国国家自然科学基金;
关键词
De novo mutation; bibliometric analysis; Web of Science; CiteSpace; research topics; developmental disorder; whole-exome sequencing; INTELLECTUAL DISABILITY; VARIANTS; ORIGIN; ARCHITECTURE; PATTERNS; PARENT; RATES; AGE;
D O I
10.1080/01677063.2024.2335171
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
As the contribution of de novo mutations (DNMs) to human genetic diseases has been gradually uncovered, analyzing the global research landscape over the past 20 years is essential. Because of the large and rapidly increasing number of publications in this field, understanding the current landscape of the contribution of DNMs in the human genome to genetic diseases remains a challenge. Bibliometric analysis provides an approach for visualizing these studies using information in published records in a specific field. This study aimed to illustrate the current global research status and explore trends in the field of DNMs underlying genetic diseases. Bibliometric analyses were performed using the Bibliometrix Package based on the R language version 4.1.3 and CiteSpace version 6.1.R2 software for publications from 2000 to 2021 indexed under the Web of Science Core Collection (WoSCC) about DNMs underlying genetic diseases on 17 September 2022. We identified 3435 records, which were published in 731 journals by 26,538 authors from 6052 institutes in 66 countries. There was an upward trend in the number of publications since 2013. The USA, China, and Germany contributed the majority of the records included. The University of Washington, Columbia University, and Baylor College of Medicine were the top-producing institutions. Evan E Eichler of the University of Washington, Stephan J Sanders of the Yale University School of Medicine, and Ingrid E Scheffer of the University of Melbourne were the most high-ranked authors. Keyword co-occurrence analysis suggested that DNMs in neurodevelopmental disorders and intellectual disabilities were research hotspots and trends. In conclusion, our data show that DNMs have a significant effect on human genetic diseases, with a noticeable increase in annual publications over the last 5 years. Furthermore, potential hotspots are shifting toward understanding the causative role and clinical interpretation of newly identified or low-frequency DNMs observed in patients.
引用
收藏
页码:9 / 18
页数:10
相关论文
共 36 条
  • [1] New insights into the generation and role of de novo mutations in health and disease
    Acuna-Hidalgo, Rocio
    Veltman, Joris A.
    Hoischen, Alexander
    [J]. GENOME BIOLOGY, 2016, 17
  • [2] De novo mutations in epileptic encephalopathies
    Allen, Andrew S.
    Berkovic, Samuel F.
    Cossette, Patrick
    Delanty, Norman
    Dlugos, Dennis
    Eichler, Evan E.
    Epstein, Michael P.
    Glauser, Tracy
    Goldstein, David B.
    Han, Yujun
    Heinzen, Erin L.
    Hitomi, Yuki
    Howell, Katherine B.
    Johnson, Michael R.
    Kuzniecky, Ruben
    Lowenstein, Daniel H.
    Lu, Yi-Fan
    Madou, Maura R. Z.
    Marson, Anthony G.
    Mefford, Heather C.
    Nieh, Sahar Esmaeeli
    O'Brien, Terence J.
    Ottman, Ruth
    Petrovski, Slave
    Poduri, Annapurna
    Ruzzo, Elizabeth K.
    Scheffer, Ingrid E.
    Sherr, Elliott H.
    Yuskaitis, Christopher J.
    Abou-Khalil, Bassel
    Alldredge, Brian K.
    Bautista, Jocelyn F.
    Berkovic, Samuel F.
    Boro, Alex
    Cascino, Gregory D.
    Consalvo, Damian
    Crumrine, Patricia
    Devinsky, Orrin
    Dlugos, Dennis
    Epstein, Michael P.
    Fiol, Miguel
    Fountain, Nathan B.
    French, Jacqueline
    Friedman, Daniel
    Geller, Eric B.
    Glauser, Tracy
    Glynn, Simon
    Haut, Sheryl R.
    Hayward, Jean
    Helmers, Sandra L.
    [J]. NATURE, 2013, 501 (7466) : 217 - +
  • [3] Rare-disease genetics in the era of next-generation sequencing: discovery to translation
    Boycott, Kym M.
    Vanstone, Megan R.
    Bulman, Dennis E.
    MacKenzie, Alex E.
    [J]. NATURE REVIEWS GENETICS, 2013, 14 (10) : 681 - 691
  • [4] Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
    Cabanillas, Ruben
    Dineiro, Marta
    Cifuentes, Guadalupe A.
    Castillo, David
    Pruneda, Patricia C.
    Alvarez, Rebeca
    Sanchez-Duran, Noelia
    Capin, Raquel
    Plasencia, Ana
    Viejo-Diaz, Monica
    Garcia-Gonzalez, Noelia
    Hernando, Ines
    Llorente, Jose L.
    Reparaz-Andrade, Alfredo
    Torreira-Banzas, Cristina
    Rosell, Jordi
    Govea, Nancy
    Ramon Gomez-Martinez, Justo
    Nunez-Batalla, Faustino
    Garrote, Jose A.
    Mazon-Gutierrez, Angel
    Costales, Maria
    Isidoro-Garcia, Maria
    Garcia-Berrocal, Belen
    Ordonez, Gonzalo R.
    Cadinanos, Juan
    [J]. BMC MEDICAL GENOMICS, 2018, 11
  • [5] Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics
    Campbell, Ian M.
    Stewart, Jonathan R.
    James, Regis A.
    Lupski, James R.
    Stankiewicz, Pawel
    Olofsson, Peter
    Shaw, Chad A.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (04) : 345 - 359
  • [6] The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
    Chong, Jessica X.
    Buckingham, Kati J.
    Jhangiani, Shalini N.
    Boehm, Corinne
    Sobreira, Nara
    Smith, Joshua D.
    Harrell, Tanya M.
    McMillin, Margaret J.
    Wiszniewski, Wojciech
    Gambin, Tomasz
    Akdemir, Zeynep H. Coban
    Doheny, Kimberly
    Scott, Alan F.
    Avramopoulos, Dimitri
    Chakravarti, Aravinda
    Hoover-Fong, Julie
    Mathews, Debra
    Witmer, P. Dane
    Ling, Hua
    Hetrick, Kurt
    Watkins, Lee
    Patterson, Karynne E.
    Reinier, Frederic
    Blue, Elizabeth
    Muzny, Donna
    Kircher, Martin
    Bilguvar, Kaya
    Lopez-Giraldez, Francesc
    Sutton, V. Reid
    Tabor, Holly K.
    Lea, Suzanne M.
    Gune, Murat
    Mane, Shrikant
    Gibbs, Richard A.
    Boerwinkle, Eric
    Hamosh, Ada
    Shendure, Jay
    Lupski, James R.
    Lifton, Richard P.
    Valle, David
    Nickerson, Deborah A.
    Bamshad, Michael J.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 97 (02) : 199 - 215
  • [7] On the Sequence-Directed Nature of Human Gene Mutation: The Role of Genomic Architecture and the Local DNA Sequence Environment in Mediating Gene Mutations Underlying Human Inherited Disease
    Cooper, David N.
    Bacolla, Albino
    Ferec, Claude
    Vasquez, Karen M.
    Kehrer-Sawatzki, Hildegard
    Chen, Jian-Min
    [J]. HUMAN MUTATION, 2011, 32 (10) : 1075 - 1099
  • [8] Synaptic, transcriptional and chromatin genes disrupted in autism
    De Rubeis, Silvia
    He, Xin
    Goldberg, Arthur P.
    Poultney, Christopher S.
    Samocha, Kaitlin
    Cicek, A. Ercument
    Kou, Yan
    Liu, Li
    Fromer, Menachem
    Walker, Susan
    Singh, Tarjinder
    Klei, Lambertus
    Kosmicki, Jack
    Fu, Shih-Chen
    Aleksic, Branko
    Biscaldi, Monica
    Bolton, Patrick F.
    Brownfeld, Jessica M.
    Cai, Jinlu
    Campbell, Nicholas G.
    Carracedo, Angel
    Chahrour, Maria H.
    Chiocchetti, Andreas G.
    Coon, Hilary
    Crawford, Emily L.
    Crooks, Lucy
    Curran, Sarah R.
    Dawson, Geraldine
    Duketis, Eftichia
    Fernandez, Bridget A.
    Gallagher, Louise
    Geller, Evan
    Guter, Stephen J.
    Hill, R. Sean
    Ionita-Laza, Iuliana
    Gonzalez, Patricia Jimenez
    Kilpinen, Helena
    Klauck, Sabine M.
    Kolevzon, Alexander
    Lee, Irene
    Lei, Jing
    Lehtimaeki, Terho
    Lin, Chiao-Feng
    Ma'ayan, Avi
    Marshall, Christian R.
    McInnes, Alison L.
    Neale, Benjamin
    Owen, Michael J.
    Ozaki, Norio
    Parellada, Mara
    [J]. NATURE, 2014, 515 (7526) : 209 - +
  • [9] Genome-wide patterns and properties of de novo mutations in humans
    Francioli, Laurent C.
    Polak, Paz P.
    Koren, Amnon
    Menelaou, Androniki
    Chun, Sung
    Renkens, Ivo
    van Duijn, Cornelia M.
    Swertz, Morris
    Wijmenga, Cisca
    van Ommen, Gertjan
    Slagboom, P. Eline
    Boomsma, Dorret I.
    Ye, Kai
    Guryev, Victor
    Arndt, Peter F.
    Kloosterman, Wigard P.
    de Bakker, Paul I. W.
    Sunyaev, Shamil R.
    [J]. NATURE GENETICS, 2015, 47 (07) : 822 - +
  • [10] De novo mutations in schizophrenia implicate synaptic networks
    Fromer, Menachem
    Pocklington, Andrew J.
    Kavanagh, David H.
    Williams, Hywel J.
    Dwyer, Sarah
    Gormley, Padhraig
    Georgieva, Lyudmila
    Rees, Elliott
    Palta, Priit
    Ruderfer, Douglas M.
    Carrera, Noa
    Humphreys, Isla
    Johnson, Jessica S.
    Roussos, Panos
    Barker, Douglas D.
    Banks, Eric
    Milanova, Vihra
    Grant, Seth G.
    Hannon, Eilis
    Rose, Samuel A.
    Chambert, Kimberly
    Mahajan, Milind
    Scolnick, Edward M.
    Moran, Jennifer L.
    Kirov, George
    Palotie, Aarno
    McCarroll, Steven A.
    Holmans, Peter
    Sklar, Pamela
    Owen, Michael J.
    Purcell, Shaun M.
    O'Donovan, Michael C.
    [J]. NATURE, 2014, 506 (7487) : 179 - +