Genic intolerance to functional variation and the interpretation of personal genomes von Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L, Allen, Andrew S, Goldstein, David B

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The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity von Petrovski, Slavé, Gussow, Ayal B, Wang, Quanli, Halvorsen, Matt, Han, Yujun, Weir, William H, Allen, Andrew S, Goldstein, David B

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The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes von Gussow, Ayal B, Petrovski, Slavé, Wang, Quanli, Allen, Andrew S, Goldstein, David B

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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis von Petrovski, Slavé, Todd, Jamie L, Durheim, Michael T, Wang, Quanli, Chien, Jason W, Kelly, Fran L, Frankel, Courtney, Mebane, Caroline M, Ren, Zhong, Bridgers, Joshua, Urban, Thomas J, Malone, Colin D, Finlen Copeland, Ashley, Brinkley, Christie, Allen, Andrew S, O'Riordan, Thomas, McHutchison, John G, Palmer, Scott M, Goldstein, David B

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An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data von Tan, Renjie, Wang, Yadong, Kleinstein, Sarah E., Liu, Yongzhuang, Zhu, Xiaolin, Guo, Hongzhe, Jiang, Qinghua, Allen, Andrew S., Zhu, Mingfu

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Transversions have larger regulatory effects than transitions von Guo, Cong, McDowell, Ian C, Nodzenski, Michael, Scholtens, Denise M, Allen, Andrew S, Lowe, William L, Reddy, Timothy E

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Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations von Ressler, Andrew K., Snellings, Daniel A., Girard, Romuald, Gallione, Carol J., Lightle, Rhonda, Allen, Andrew S., Awad, Issam A., Marchuk, Douglas A.

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Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance von Hayeck, Tristan J., Stong, Nicholas, Wolock, Charles J., Copeland, Brett, Kamalakaran, Sitharthan, Goldstein, David B., Allen, Andrew S.

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Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls von Hu, Yi-Juan, Liao, Peizhou, Johnston, H Richard, Allen, Andrew S, Satten, Glen A

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Family-based association tests for rare variants with censored traits von Qi, Wenjing, Allen, Andrew S, Li, Yi-Ju

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A Permutation Procedure to Correct for Confounders in Case-Control Studies, Including Tests of Rare Variation von Epstein, Michael P., Duncan, Richard, Jiang, Yunxuan, Conneely, Karen N., Allen, Andrew S., Satten, Glen A.

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Incorporating Functional Information in Tests of Excess De Novo Mutational Load von Jiang, Yu, Han, Yujun, Petrovski, Slavé, Owzar, Kouros, Goldstein, David B., Allen, Andrew S.

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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia von Heinzen, Erin L, O'Neill, Adam C, Zhu, Xiaolin, Allen, Andrew S, Bahlo, Melanie, Chelly, Jamel, Chen, Ming Hui, Dobyns, William B, Freytag, Saskia, Guerrini, Renzo, Leventer, Richard J, Poduri, Annapurna, Robertson, Stephen P, Walsh, Christopher A, Zhang, Mengqi

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Human genome-wide measurement of drug-responsive regulatory activity von Johnson, Graham D., Barrera, Alejandro, McDowell, Ian C., D’Ippolito, Anthony M., Majoros, William H., Vockley, Christopher M., Wang, Xingyan, Allen, Andrew S., Reddy, Timothy E.

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Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics von Gussow, Ayal B, Copeland, Brett R, Dhindsa, Ryan S, Wang, Quanli, Petrovski, Slavé, Majoros, William H, Allen, Andrew S, Goldstein, David B

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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy von Hildebrand, Michael S., Griffin, Nicole G., Damiano, John A., Cops, Elisa J., Burgess, Rosemary, Ozturk, Ezgi, Jones, Nigel C., Leventer, Richard J., Freeman, Jeremy L., Harvey, A. Simon, Sadleir, Lynette G., Scheffer, Ingrid E., Major, Heather, Darbro, Benjamin W., Allen, Andrew S., Goldstein, David B., Kerrigan, John F., Berkovic, Samuel F., Heinzen, Erin L.

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Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABAA receptors von Teoh, JiaJie, Subramanian, Narayan, Pero, Maria Elena, Bartolini, Francesca, Amador, Ariadna, Kanber, Ayla, Williams, Damian, Petri, Sabrina, Yang, Mu, Allen, Andrew S., Beal, Jules, Haut, Sheryl R., Frankel, Wayne N.

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Mapping eQTL by leveraging multiple tissues and DNA methylation von Acharya, Chaitanya R, Owzar, Kouros, Allen, Andrew S

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Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia von Beaman, M Makenzie, Yin, Weining, Smith, Amanda J, Sears, Patrick R, Leigh, Margaret W, Ferkol, Thomas W, Kearney, Brendan, Olivier, Kenneth N, Kimple, Adam J, Clarke, Shannon, Huggins, Erin, Nading, Erica, Jung, Seung-Hye, Iyengar, Apoorva K, Zou, Xue, Dang, Hong, Barrera, Alejandro, Majoros, William H, Rehder, Catherine W, Reddy, Timothy E, Ostrowski, Lawrence E, Allen, Andrew S, Knowles, Michael R, Zariwala, Maimoona A, Crawford, Gregory E

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A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations von Zhu, Xiaolin, Padmanabhan, Raghavendra, Copeland, Brett, Bridgers, Joshua, Ren, Zhong, Kamalakaran, Sitharthan, O'Driscoll-Collins, Ailbhe, Berkovic, Samuel F, Scheffer, Ingrid E, Poduri, Annapurna, Mei, Davide, Guerrini, Renzo, Lowenstein, Daniel H, Allen, Andrew S, Heinzen, Erin L, Goldstein, David B

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