Zobrazeno 1 - 10
of 235
pro vyhledávání: '"Kathryn Roeder"'
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-30 (2024)
Abstract Single-cell CRISPR screens (perturb-seq) link genetic perturbations to phenotypic changes in individual cells. The most fundamental task in perturb-seq analysis is to test for association between a perturbation and a count outcome, such as g
Externí odkaz:
https://doaj.org/article/6e216c80c9854ef2875c24259e8df35a
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-30 (2024)
Abstract Background Single-cell RNA-sequencing (scRNA) datasets are becoming increasingly popular in clinical and cohort studies, but there is a lack of methods to investigate differentially expressed (DE) genes among such datasets with numerous indi
Externí odkaz:
https://doaj.org/article/6e0fcb6c551241dc933e25226edfea59
Autor:
Tianyu Zhang, Geyu Zhou, Lambertus Klei, Peng Liu, Alexandra Chouldechova, Hongyu Zhao, Kathryn Roeder, Max G’Sell, Bernie Devlin
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100280- (2024)
Summary: Polygenic scores (PGSs) are quantitative metrics for predicting phenotypic values, such as human height or disease status. Some PGS methods require only summary statistics of a relevant genome-wide association study (GWAS) for their score. O
Externí odkaz:
https://doaj.org/article/897e701c2de84722aba1bb15d9eabcef
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-19 (2021)
Abstract Single-cell CRISPR screens are a promising biotechnology for mapping regulatory elements to target genes at genome-wide scale. However, technical factors like sequencing depth impact not only expression measurement but also perturbation dete
Externí odkaz:
https://doaj.org/article/23204981ed9d4ac8922af76c98ba4015
Autor:
Lambertus Klei, Lora Lee McClain, Behrang Mahjani, Klea Panayidou, Silvia De Rubeis, Anna-Carin Säll Grahnat, Gun Karlsson, Yangyi Lu, Nadine Melhem, Xinyi Xu, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Joseph D. Buxbaum, Kathryn Roeder, Bernie Devlin
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-13 (2021)
Abstract Background Genetic studies have implicated rare and common variations in liability for autism spectrum disorder (ASD). Of the discovered risk variants, those rare in the population invariably have large impact on liability, while common vari
Externí odkaz:
https://doaj.org/article/4e6961eb1667479092ad9ac27de2cdb3
Autor:
Behrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, Maureen Mulhern, Xinyi Xu, Lambertus Klei, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Bernie Devlin, Joseph D. Buxbaum
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-12 (2021)
Abstract Background The Autism Sequencing Consortium identified 102 high-confidence autism spectrum disorder (ASD) genes, showing that individuals with ASD and with potentially damaging single nucleotide variation (pdSNV) in these genes had lower cog
Externí odkaz:
https://doaj.org/article/b9609e23d33c4f859797a3249545c452
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-16 (2020)
Abstract Background Whole-exome sequencing studies have been useful for identifying genes that, when mutated, affect risk for autism spectrum disorder (ASD). Nonetheless, the association signal primarily arises from de novo protein-truncating variant
Externí odkaz:
https://doaj.org/article/a546e9e525ad40f29311f963cfc0332b
Autor:
Donna M. Werling, Sirisha Pochareddy, Jinmyung Choi, Joon-Yong An, Brooke Sheppard, Minshi Peng, Zhen Li, Claudia Dastmalchi, Gabriel Santpere, André M.M. Sousa, Andrew T.N. Tebbenkamp, Navjot Kaur, Forrest O. Gulden, Michael S. Breen, Lindsay Liang, Michael C. Gilson, Xuefang Zhao, Shan Dong, Lambertus Klei, A. Ercument Cicek, Joseph D. Buxbaum, Homa Adle-Biassette, Jean-Leon Thomas, Kimberly A. Aldinger, Diana R. O’Day, Ian A. Glass, Noah A. Zaitlen, Michael E. Talkowski, Kathryn Roeder, Matthew W. State, Bernie Devlin, Stephan J. Sanders, Nenad Sestan
Publikováno v:
Cell Reports, Vol 31, Iss 1, Pp - (2020)
Summary: Gene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to the variation in expression, and some neuropsychiatric disorder loci may exert their effects through this mechani
Externí odkaz:
https://doaj.org/article/659cb161cbb744e39a67fefdafb36d56
Autor:
Shan Dong, Michael F. Walker, Nicholas J. Carriero, Michael DiCola, A. Jeremy Willsey, Adam Y. Ye, Zainulabedin Waqar, Luis E. Gonzalez, John D. Overton, Stephanie Frahm, John F. Keaney, III, Nicole A. Teran, Jeanselle Dea, Jeffrey D. Mandell, Vanessa Hus Bal, Catherine A. Sullivan, Nicholas M. DiLullo, Rehab O. Khalil, Jake Gockley, Zafer Yuksel, Sinem M. Sertel, A. Gulhan Ercan-Sencicek, Abha R. Gupta, Shrikant M. Mane, Michael Sheldon, Andrew I. Brooks, Kathryn Roeder, Bernie Devlin, Matthew W. State, Liping Wei, Stephan J. Sanders
Publikováno v:
Cell Reports, Vol 9, Iss 1, Pp 16-23 (2014)
Summary: Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and
Externí odkaz:
https://doaj.org/article/a6670f84f35344a18b11c3dfc99d518e
Autor:
Li Liu, Aniko Sabo, Benjamin M Neale, Uma Nagaswamy, Christine Stevens, Elaine Lim, Corneliu A Bodea, Donna Muzny, Jeffrey G Reid, Eric Banks, Hillary Coon, Mark Depristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook, Bernie Devlin, Gerard D Schellenberg, James S Sutcliffe, Mark J Daly, Richard A Gibbs, Kathryn Roeder
Publikováno v:
PLoS Genetics, Vol 9, Iss 4, p e1003443 (2013)
We report on results from whole-exome sequencing (WES) of 1,039 subjects diagnosed with autism spectrum disorders (ASD) and 870 controls selected from the NIMH repository to be of similar ancestry to cases. The WES data came from two centers using di
Externí odkaz:
https://doaj.org/article/9939beeb8dd24c64a4ec4cb26f0d76e2