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De Novo Coding Variants Are Strongly Associated with Tourette Disorder

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De Novo Coding Variants Are Strongly Associated with Tourette Disorder. / Willsey, A Jeremy; Fernandez, Thomas V; Yu, Dongmei; King, Robert A; Dietrich, Andrea; Xing, Jinchuan; Sanders, Jan-Stephan; Mandell, Jeffrey D; Huang, Alden Y; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E; Neale, Benjamin M; Coppola, Giovanni; Mathews, Carol A; Tischfield, Jay A; Scharf, Jeremiah M; State, Matthew W; Heiman, Gary A; Tourette International Collaborative Genetics (TIC Genetics).

in: NEURON, Jahrgang 94, Nr. 3, 03.05.2017, S. 486-499.e9.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Willsey, AJ, Fernandez, TV, Yu, D, King, RA, Dietrich, A, Xing, J, Sanders, J-S, Mandell, JD, Huang, AY, Richer, P, Smith, L, Dong, S, Samocha, KE, Neale, BM, Coppola, G, Mathews, CA, Tischfield, JA, Scharf, JM, State, MW, Heiman, GA & Tourette International Collaborative Genetics (TIC Genetics) 2017, 'De Novo Coding Variants Are Strongly Associated with Tourette Disorder', NEURON, Jg. 94, Nr. 3, S. 486-499.e9. https://doi.org/10.1016/j.neuron.2017.04.024

APA

Willsey, A. J., Fernandez, T. V., Yu, D., King, R. A., Dietrich, A., Xing, J., Sanders, J-S., Mandell, J. D., Huang, A. Y., Richer, P., Smith, L., Dong, S., Samocha, K. E., Neale, B. M., Coppola, G., Mathews, C. A., Tischfield, J. A., Scharf, J. M., State, M. W., ... Tourette International Collaborative Genetics (TIC Genetics) (2017). De Novo Coding Variants Are Strongly Associated with Tourette Disorder. NEURON, 94(3), 486-499.e9. https://doi.org/10.1016/j.neuron.2017.04.024

Vancouver

Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J et al. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. NEURON. 2017 Mai 3;94(3):486-499.e9. https://doi.org/10.1016/j.neuron.2017.04.024

Bibtex

@article{d50527d0a890467380da7e2c1bfd45a4,
title = "De Novo Coding Variants Are Strongly Associated with Tourette Disorder",
abstract = "Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT.",
keywords = "Journal Article",
author = "Willsey, {A Jeremy} and Fernandez, {Thomas V} and Dongmei Yu and King, {Robert A} and Andrea Dietrich and Jinchuan Xing and Jan-Stephan Sanders and Mandell, {Jeffrey D} and Huang, {Alden Y} and Petra Richer and Louw Smith and Shan Dong and Samocha, {Kaitlin E} and Neale, {Benjamin M} and Giovanni Coppola and Mathews, {Carol A} and Tischfield, {Jay A} and Scharf, {Jeremiah M} and State, {Matthew W} and Heiman, {Gary A} and {Tourette International Collaborative Genetics (TIC Genetics)} and Odette Fr{\"u}ndt",
note = "Copyright {\textcopyright} 2017 Elsevier Inc. All rights reserved.",
year = "2017",
month = may,
day = "3",
doi = "10.1016/j.neuron.2017.04.024",
language = "English",
volume = "94",
pages = "486--499.e9",
journal = "NEURON",
issn = "0896-6273",
publisher = "Cell Press",
number = "3",

}

RIS

TY - JOUR

T1 - De Novo Coding Variants Are Strongly Associated with Tourette Disorder

AU - Willsey, A Jeremy

AU - Fernandez, Thomas V

AU - Yu, Dongmei

AU - King, Robert A

AU - Dietrich, Andrea

AU - Xing, Jinchuan

AU - Sanders, Jan-Stephan

AU - Mandell, Jeffrey D

AU - Huang, Alden Y

AU - Richer, Petra

AU - Smith, Louw

AU - Dong, Shan

AU - Samocha, Kaitlin E

AU - Neale, Benjamin M

AU - Coppola, Giovanni

AU - Mathews, Carol A

AU - Tischfield, Jay A

AU - Scharf, Jeremiah M

AU - State, Matthew W

AU - Heiman, Gary A

AU - Tourette International Collaborative Genetics (TIC Genetics)

AU - Fründt, Odette

N1 - Copyright © 2017 Elsevier Inc. All rights reserved.

PY - 2017/5/3

Y1 - 2017/5/3

N2 - Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT.

AB - Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT.

KW - Journal Article

U2 - 10.1016/j.neuron.2017.04.024

DO - 10.1016/j.neuron.2017.04.024

M3 - SCORING: Journal article

C2 - 28472652

VL - 94

SP - 486-499.e9

JO - NEURON

JF - NEURON

SN - 0896-6273

IS - 3

ER -