Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Epi25 Collaborative; Columbia University Institute for Genomic Medicine analysis group; Epi25 sequencing, analysis, project management, and browser development at the Broad Institute; Epi25 executive committee; Epi25 strategy, phenotyping, analysis, informatics, and project management committees; Authors from individual Epi25 cohorts:; Ludovica Montanucci; David Lewis-Smith; Ryan L. Collins

doi:10.1038/s41467-023-39539-6

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Epi25 Collaborative, Columbia University Institute for Genomic Medicine analysis group, Epi25 sequencing, analysis, project management, and browser development at the Broad Institute, Epi25 executive committee, Epi25 strategy, phenotyping, analysis, informatics, and project management committees, Authors from individual Epi25 cohorts:, Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Artikkeli	4392
Lehti	Nature Communications
Vuosikerta	14
Numero	1
Sivumäärä	19
ISSN	2041-1723
DOI - pysyväislinkit	https://doi.org/10.1038/s41467-023-39539-6
Tila	Julkaistu - 20 heinäk. 2023
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Lisätietoja

Funding Information:
This research was funded in whole, or in part, by the Wellcome Trust [203914/Z/16/Z], supporting D.L.S. For the purpose of Open Access, the author has applied a CC BY public copyright license to any Author Accepted Manuscript version arising from this submission. I.H. was supported by The Hartwell Foundation (Individual Biomedical Research Award), the National Institute for Neurological Disorders and Stroke (K02 NS112600), the Eunice Kennedy Shriver National Institute of Child Health and Human Development through the Intellectual and Developmental Disabilities Research Center (IDDRC) at Children’s Hospital of Philadelphia and the University of Pennsylvania (U54 HD086984), and by the German Research Foundation (HE5415/3-1, HE5415/5-1, HE5415/6-1, HE5415/7-1). Research reported in this publication was also supported by the National Center for Advancing Translational Sciences of the National Institutes of Health (UL1TR001878), by the Institute for Translational Medicine and Therapeutics’ (ITMAT) at the Perelman School of Medicine of the University of Pennsylvania, and by Children’s Hospital of Philadelphia through the Epilepsy NeuroGenetics Initiative (ENGIN). R.L.C. was supported by NHGRI T32HG002295 and NSF GRFP #2017240332. We thank the Epi25 principal investigators, local staff from individual cohorts, and all of the patients with epilepsy who participated in the study for making this global collaboration and resource possible to advance epilepsy genetics research. This work is part of the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institute (NHGRI) and the National Heart, Lung, and Blood Institute (NHLBI). CCDG-funded Epi25 research activities at the Broad Institute, including genomic data generation in the Broad Genomics Platform, are supported by NHGRI grant UM1 HG008895 (PIs: Eric Lander, Stacey Gabriel, Mark Daly, Sekar Kathiresan). The Genome Sequencing Program efforts were also supported by NHGRI grant 5U01HG009088-02. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. We thank the Stanley Center for Psychiatric Research at the Broad Institute for supporting the genomic data generation efforts and control sample aggregation.

Publisher Copyright:
© 2023, The Author(s).

Tieteenalat

3111 Biolääketieteet
1184 Genetiikka, kehitysbiologia, fysiologia

Pääsy asiakirjaan

10.1038/s41467-023-39539-6

s41467-023-39539-6Lopullinen julkaistu versio, 1,68 MBLisenssi: CC BY

Siteeraa tätä

Epi25 Collaborative, Columbia University Institute for Genomic Medicine analysis group, Epi25 sequencing, analysis, project management, and browser development at the Broad Institute, Epi25 executive committee, Epi25 strategy, phenotyping, analysis, informatics, and project management committees, Authors from individual Epi25 cohorts:, Montanucci, L., Lewis-Smith, D., & Collins, R. L. (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14(1), Artikkeli 4392. https://doi.org/10.1038/s41467-023-39539-6

Epi25 Collaborative ; Columbia University Institute for Genomic Medicine analysis group ; Epi25 sequencing, analysis, project management, and browser development at the Broad Institute et al. / Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Julkaisussa: Nature Communications. 2023 ; Vuosikerta 14, Nro 1.

@article{b2ff7f199d2145deb91c2e3a884746db,

title = "Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals",

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "{Epi25 Collaborative} and {Columbia University Institute for Genomic Medicine analysis group} and {Epi25 sequencing, analysis, project management, and browser development at the Broad Institute} and {Epi25 executive committee} and {Epi25 strategy, phenotyping, analysis, informatics, and project management committees} and {Authors from individual Epi25 cohorts:} and Ludovica Montanucci and David Lewis-Smith and Collins, {Ryan L.} and Niestroj, {Lisa Marie} and Shridhar Parthasarathy and Julie Xian and Shiva Ganesan and Marie Macnee and Tobias Br{\"u}nger and Thomas, {Rhys H.} and Michael Talkowski and Motelow, {Joshua E.} and Gundula Povysil and Dhindsa, {Ryan S.} and Stanley, {Kate E.} and Allen, {Andrew S.} and Goldstein, {David B.} and Feng, {Yen Chen Anne} and Howrigan, {Daniel P.} and Abbott, {Liam E.} and Katherine Tashman and Felecia Cerrato and Caroline Cusick and Tarjinder Singh and Henrike Heyne and Byrnes, {Andrea E.} and Claire Churchhouse and Nick Watts and Matthew Solomonson and Dennis Lal and Namrata Gupta and Neale, {Benjamin M.} and Berkovic, {Samuel F.} and Holger Lerche and Lowenstein, {Daniel H.} and Cavalleri, {Gianpiero L.} and Patrick Cossette and Chris Cotsapas and {De Jonghe}, Peter and Tracy Dixon-Salazar and Renzo Guerrini and Hakon Hakonarson and Heinzen, {Erin L.} and Ingo Helbig and Patrick Kwan and Marson, {Anthony G.} and Slav{\'e} Petrovski and Patrick May and Tarja Linnankivi and Anna-Elina Lehesjoki",

note = "Publisher Copyright: {\textcopyright} 2023, The Author(s).",

year = "2023",

month = jul,

day = "20",

doi = "10.1038/s41467-023-39539-6",

language = "English",

volume = "14",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group",

number = "1",

}

Epi25 Collaborative, Columbia University Institute for Genomic Medicine analysis group, Epi25 sequencing, analysis, project management, and browser development at the Broad Institute, Epi25 executive committee, Epi25 strategy, phenotyping, analysis, informatics, and project management committees, Authors from individual Epi25 cohorts:, Montanucci, L, Lewis-Smith, D & Collins, RL 2023, 'Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals', Nature Communications, Vuosikerta 14, Nro 1, 4392. https://doi.org/10.1038/s41467-023-39539-6

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. / Epi25 Collaborative; Columbia University Institute for Genomic Medicine analysis group; Epi25 sequencing, analysis, project management, and browser development at the Broad Institute et al.
julkaisussa: Nature Communications, Vuosikerta 14, Nro 1, 4392, 20.07.2023.

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

TY - JOUR

T1 - Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

AU - Epi25 Collaborative

AU - Columbia University Institute for Genomic Medicine analysis group

AU - Epi25 sequencing, analysis, project management, and browser development at the Broad Institute

AU - Epi25 executive committee

AU - Epi25 strategy, phenotyping, analysis, informatics, and project management committees

AU - Authors from individual Epi25 cohorts:

AU - Montanucci, Ludovica

AU - Lewis-Smith, David

AU - Collins, Ryan L.

AU - Niestroj, Lisa Marie

AU - Parthasarathy, Shridhar

AU - Xian, Julie

AU - Ganesan, Shiva

AU - Macnee, Marie

AU - Brünger, Tobias

AU - Thomas, Rhys H.

AU - Talkowski, Michael

AU - Motelow, Joshua E.

AU - Povysil, Gundula

AU - Dhindsa, Ryan S.

AU - Stanley, Kate E.

AU - Allen, Andrew S.

AU - Goldstein, David B.

AU - Feng, Yen Chen Anne

AU - Howrigan, Daniel P.

AU - Abbott, Liam E.

AU - Tashman, Katherine

AU - Cerrato, Felecia

AU - Cusick, Caroline

AU - Singh, Tarjinder

AU - Heyne, Henrike

AU - Byrnes, Andrea E.

AU - Churchhouse, Claire

AU - Watts, Nick

AU - Solomonson, Matthew

AU - Lal, Dennis

AU - Gupta, Namrata

AU - Neale, Benjamin M.

AU - Berkovic, Samuel F.

AU - Lerche, Holger

AU - Lowenstein, Daniel H.

AU - Cavalleri, Gianpiero L.

AU - Cossette, Patrick

AU - Cotsapas, Chris

AU - De Jonghe, Peter

AU - Dixon-Salazar, Tracy

AU - Guerrini, Renzo

AU - Hakonarson, Hakon

AU - Heinzen, Erin L.

AU - Helbig, Ingo

AU - Kwan, Patrick

AU - Marson, Anthony G.

AU - Petrovski, Slavé

AU - May, Patrick

AU - Linnankivi, Tarja

AU - Lehesjoki, Anna-Elina

PY - 2023/7/20

Y1 - 2023/7/20

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41467-023-39539-6

DO - 10.1038/s41467-023-39539-6

M3 - Article

C2 - 37474567

AN - SCOPUS:85165735871

SN - 2041-1723

VL - 14

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 4392

ER -

Epi25 Collaborative, Columbia University Institute for Genomic Medicine analysis group, Epi25 sequencing, analysis, project management, and browser development at the Broad Institute, Epi25 executive committee, Epi25 strategy, phenotyping, analysis, informatics, and project management committees, Authors from individual Epi25 cohorts: et al. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications. 2023 heinä 20;14(1):4392. doi: 10.1038/s41467-023-39539-6