Prospects for the automated extraction of mutation data from the scientific literature

Por Stenson, Peter D, Cooper, David N
Publicado em 2010

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

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

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

Por Cooper David N, Mort Matthew, Stenson Peter D, Ball Edward V, Chuzhanova Nadia A
Publicado em 2010-08-01

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

Por Fechtel, Kim, Osterbur, Marika L., Kehrer-Sawatzki, Hildegard, Stenson, Peter D., Cooper, David N.
Publicado em 2011

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

Por Cooper, David N, Mort, Matthew, Stenson, Peter D, Ball, Edward V, Chuzhanova, Nadia A
Publicado em 2010

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics

Por Stenson, Peter D, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Mort, Matthew, Cooper, David N
Publicado em 2009

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Por Stenson, Peter D., Mort, Matthew, Ball, Edward V., Shaw, Katy, Phillips, Andrew D., Cooper, David N.
Publicado em 2013

iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations

Por Liang, Siqi, Tippens, Nathaniel D., Zhou, Yaoda, Mort, Matthew, Stenson, Peter D., Cooper, David N., Yu, Haiyuan
Publicado no Genome Biol (2017)

The Human Gene Mutation Database: 2008 update

Por Stenson, Peter D, Mort, Matthew, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Thomas, Nick ST, Cooper, David N
Publicado em 2009

MuPIT Interactive: Webserver for mapping variant positions to annotated, interactive 3D structures

Por Niknafs, Noushin, Kim, Dewey, Kim, Ryang Guk, Diekhans, Mark, Ryan, Michael, Stenson, Peter D., Cooper, David N., Karchin, Rachel
Publicado em 2013

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 em 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 no Hum Mutat (2015)

Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties

Por Bacolla, Albino, Larson, Jacquelynn E., Collins, Jack R., Li, Jian, Milosavljevic, Aleksandar, Stenson, Peter D., Cooper, David N., Wells, Robert D.
Publicado em 2008

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

Por Gonsalves, Stephen G., Ng, David, Johnston, Jennifer J., Teer, Jamie K., Stenson, Peter D., Cooper, David N., Mullikin, James C., Biesecker, Leslie G.
Publicado em 2013

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

Por Shihab, Hashem A, Gough, Julian, Cooper, David N, Stenson, Peter D, Barker, Gary L A, Edwards, Keith J, Day, Ian N M, Gaunt, Tom R
Publicado em 2013

Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks

Por Das, Jishnu, Lee, Hao Ran, Sagar, Adithya, Fragoza, Robert, Liang, Jin, Wei, Xiaomu, Wang, Xiujuan, Mort, Matthew, Stenson, Peter D., Cooper, David N., Yu, Haiyuan
Publicado no Hum Mutat (2014)

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

Por Xue, Yali, Chen, Yuan, Ayub, Qasim, Huang, Ni, Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shaw, Katy, Stenson, Peter D., Cooper, David N., Tyler-Smith, Chris
Publicado em 2012

mutation3D: cancer gene prediction through atomic clustering of coding variants in the structural proteome

Por Meyer, Michael J., Lapcevic, Ryan, Romero, Alfonso E., Yoon, Mark, Das, Jishnu, Beltrán, Juan Felipe, Mort, Matthew, Stenson, Peter D., Cooper, David N., Paccanaro, Alberto, Yu, Haiyuan
Publicado no Hum Mutat (2016)

A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing

Por Chen, Yun-Ching, Douville, Christopher, Wang, Cheng, Niknafs, Noushin, Yeo, Grace, Beleva-Guthrie, Violeta, Carter, Hannah, Stenson, Peter D., Cooper, David N., Li, Biao, Mooney, Sean, Karchin, Rachel
Publicado em 2014

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes

Por Huang, Hui, Winter, Eitan E, Wang, Huajun, Weinstock, Keith G, Xing, Heming, Goodstadt, Leo, Stenson, Peter D, Cooper, David N, Smith, Douglas, Albà, M Mar, Ponting, Chris P, Fechtel, Kim
Publicado em 2004