Genome Landscapes of Disease: Strategies to Predict the Phenotypic Consequences of Human Germline and Somatic Variation

por Karchin, Rachel, Nussinov, Ruth
Publicado 2016

Clustering by antigen-presenting genes reveals immune landscapes and predicts response to checkpoint immunotherapy

por Gong, Xutong, Karchin, Rachel
Publicado 2023

Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants

por Masica, David L., Karchin, Rachel
Publicado 2016

Integrating diverse genomic data using gene sets

por Tyekucheva, Svitlana, Marchionni, Luigi, Karchin, Rachel, Parmigiani, Giovanni
Publicado 2011

Network Models of TEM β-Lactamase Mutations Coevolving under Antibiotic Selection Show Modular Structure and Anticipate Evolutionary Trajectories

por Guthrie, Violeta Beleva, Allen, Jennifer, Camps, Manel, Karchin, Rachel
Publicado 2011

Classifying Variants of Undetermined Significance in BRCA2 with Protein Likelihood Ratios

por Karchin, Rachel, Agarwal, Mukesh, Sali, Andrej, Couch, Fergus, Beattie, Mary S.
Publicado 2008

SubClonal Hierarchy Inference from Somatic Mutations: Automatic Reconstruction of Cancer Evolutionary Trees from Multi-region Next Generation Sequencing

por Niknafs, Noushin, Beleva-Guthrie, Violeta, Naiman, Daniel Q., Karchin, Rachel
Publicado 2015

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

por Carter, Hannah, Douville, Christopher, Stenson, Peter D, Cooper, David N, Karchin, Rachel
Publicado 2013

Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning

por Karchin, Rachel, Monteiro, Alvaro N. A, Tavtigian, Sean V, Carvalho, Marcelo A, Sali, Andrej
Publicado 2007

Exonic DNA Sequencing of ERBB4 in Bipolar Disorder

por Goes, Fernando S., Rongione, Michael, Chen, Yun-Ching, Karchin, Rachel, Elhaik, Eran, Potash, James B.
Publicado 2011

CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer

por Wong, Wing Chung, Kim, Dewey, Carter, Hannah, Diekhans, Mark, Ryan, Michael C., Karchin, Rachel
Publicado 2011

Yeast two-hybrid junk sequences contain selected linear motifs

por Liu, Yun, Woods, Nicholas T., Kim, Dewey, Sweet, Michael, Monteiro, Alvaro N. A., Karchin, Rachel
Publicado 2011

Network Analysis of Protein Adaptation: Modeling the Functional Impact of Multiple Mutations

por Beleva Guthrie, Violeta, Masica, David L, Fraser, Andrew, Federico, Joseph, Fan, Yunfan, Camps, Manel, Karchin, Rachel
Publicado 2018

Integrated Informatics Analysis of Cancer-Related Variants

por Pagel, Kymberleigh A., Kim, Rick, Moad, Kyle, Busby, Ben, Zheng, Lily, Tokheim, Collin, Ryan, Michael, Karchin, Rachel
Publicado 2020

Experimental and In Silico Analysis of TEM β-Lactamase Adaptive Evolution

por Standley, Melissa, Blay, Vincent, Beleva Guthrie, Violeta, Kim, Jay, Lyman, Audrey, Moya, Andrés, Karchin, Rachel, Camps, Manel
Publicado 2022

CRAVAT: cancer-related analysis of variants toolkit

por Douville, Christopher, Carter, Hannah, Kim, Rick, Niknafs, Noushin, Diekhans, Mark, Stenson, Peter D., Cooper, David N., Ryan, Michael, Karchin, Rachel
Publicado 2013

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST‐Indel)

por Douville, Christopher, Masica, David L., Stenson, Peter D., Cooper, David N., Gygax, Derek M., Kim, Rick, Ryan, Michael, Karchin, Rachel
Publicado 2015

Detecting species-site dependencies in large multiple sequence alignments

por Schwarz, Roland, Seibel, Philipp N., Rahmann, Sven, Schoen, Christoph, Huenerberg, Mirja, Müller-Reible, Clemens, Dandekar, Thomas, Karchin, Rachel, Schultz, Jörg, Müller, Tobias
Publicado 2009

Autologous reconstitution of human cancer and immune system in vivo

por Fu, Juan, Sen, Rupashree, Masica, David L., Karchin, Rachel, Pardoll, Drew, Walter, Vonn, Hayes, D. Neil, Chung, Christine H., Kim, Young J.
Publicado 2016

Characterization of genetic subclonal evolution in pancreatic cancer mouse models

por Niknafs, Noushin, Zhong, Yi, Moral, John Alec, Zhang, Lance, Shao, Melody Xiaoshan, Lo, April, Makohon-Moore, Alvin, Iacobuzio-Donahue, Christine A., Karchin, Rachel
Publicado 2019