Research graph
References from HiFIseek: Gene-specific enrichment of high-impact mutations in associated genomic regions. Local targets link to admitted publications; unresolved targets remain external evidence.
Transcription factors and DNA play hide and seek
10.1016/j.tcb.2020.03.003 · 2020 · External reference
Beyond the exome: The role of non-coding somatic mutations in cancer
10.1093/annonc/mdv561 · 2016 · External reference
Making sense of GWAS: Using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome
10.1186/s13072-015-0050-4 · 2015 · External reference
The roles of initiating truncal mutations in human cancers: The order of mutations and tumor cell type matters
10.1016/j.ccell.2018.11.009 · 2019 · External reference
Pan-cancer analysis of whole genomes
10.1038/s41586-020-1969-6 · 2020 · External reference
Highly recurrent TERT promoter mutations in human melanoma
10.1126/science.1229259 · 2013 · External reference
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
10.1073/pnas.1303607110 · 2013 · External reference
Transcription Factor-Centric Approach to Identify Non-Recurring Putative Regulatory Drivers in Cancer.
10.1007/978-3-031-04749-7_3 · 2022 · External reference
Cistrome partitioning reveals convergence of somatic mutations and risk variants on master transcription regulators in primary prostate tumors
10.1016/j.ccell.2019.10.005 · 2019 · External reference
Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters
10.1016/j.cell.2016.09.037 · 2016 · External reference
FTO obesity variant circuitry and adipocyte browning in humans
10.1056/nejmoa1502214 · 2015 · External reference
OncodriveFML: A general framework to identify coding and non-coding regions with cancer driver mutations
10.1186/s13059-016-0994-0 · 2016 · External reference
GeneHancer: Genome-wide integration of enhancers and target genes in GeneCards
10.1093/database/bax028 · 2017 · External reference
Integrative analysis of epigenetics data identifies gene-specific regulatory elements
10.1093/nar/gkab798 · 2021 · External reference
Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations
10.1038/s41588-019-0538-0 · 2019 · External reference
Genome-wide enhancer maps link risk variants to disease genes
10.1038/s41586-021-03446-x · 2021 · External reference
Promoter capture Hi-C: High-resolution, genome-wide profiling of promoter interactions
10.3791/57320 · 2018 · External reference
CADD: Predicting the deleteriousness of variants throughout the human genome
10.1093/nar/gky1016 · 2019 · External reference
DANN: A deep learning approach for annotating the pathogenicity of genetic variants
10.1093/bioinformatics/btu703 · 2015 · External reference
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data
10.1038/ng.3810 · 2017 · External reference
A spectral approach integrating functional genomic annotations for coding and noncoding variants
10.1038/ng.3477 · 2016 · External reference
A sequence-based global map of regulatory activity for deciphering human genetics
10.1038/s41588-022-01102-2 · 2022 · External reference
Sustainable data analysis with Snakemake
10.12688/f1000research.29032.2 · 2021 · External reference
The cancer genome atlas pan-cancer analysis project
10.1038/ng.2764 · 2013 · External reference
The International Cancer Genome Consortium Data Portal
10.1038/s41587-019-0055-9 · 2019 · External reference
Association analysis identifies 65 new breast cancer risk loci
10.1038/nature24284 · 2017 · External reference
Gene ontology: Tool for the unification of biology
10.1038/75556 · 2000 · External reference
The gene ontology knowledgebase in 2023
2023 · External reference
CBFB cooperates with p53 to maintain TAp73 expression and suppress breast cancer
10.1371/journal.pgen.1009553 · 2021 · External reference
RAS proteins and their regulators in human disease
10.1016/j.cell.2017.06.009 · 2017 · External reference
RASGEF1C as a novel prognostic biomarker for LUAD
10.1007/s12672-024-01718-2 · 2024 · External reference
The human genome browser at UCSC
10.1101/gr.229102 · 2002 · External reference
A promoter-level mammalian expression atlas
10.1038/nature13182 · 2014 · External reference
OncodriveCLUSTL: A sequence-based clustering method to identify cancer drivers
10.1093/bioinformatics/btz501 · 2019 · External reference
The OncoArray consortium: A network for understanding the genetic architecture of common cancers
10.1158/1055-9965.epi-16-0106 · 2017 · External reference
FATHMM-XF: Accurate prediction of pathogenic point mutations via extended features
10.1093/bioinformatics/btx536 · 2018 · External reference
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
10.1101/gr.3715005 · 2005 · External reference
A compendium of mutational cancer driver genes
10.1038/s41568-020-0290-x · 2020 · External reference
The Network of Cancer Genes (NCG): A comprehensive catalogue of known and candidate cancer genes from cancer sequencing screens
10.1186/s13059-018-1612-0 · 2019 · External reference
COSMIC: the Catalogue Of Somatic Mutations In Cancer
2018 · External reference
Unresolved reference
2023 · External reference
10.1007/978-3-319-24277-4
10.1007/978-3-319-24277-4 · 2016 · External reference
Unresolved reference
External reference
Unresolved reference
2020 · External reference
Unresolved reference
2021 · External reference
g:Profiler: A web server for functional enrichment analysis and conversions of gene lists (2019 update)
10.1093/nar/gkz369 · 2019 · External reference
GOATOOLS: A Python library for gene ontology analyses
10.1038/s41598-018-28948-z · 2018 · External reference
The genotype-tissue expression (GTEx) project
10.1038/ng.2653 · 2013 · External reference
Atlas of primary cell-type-specific sequence models of gene expression and variant effects
10.1016/j.crmeth.2023.100580 · 2023 · External reference
A spatially resolved single-cell genomic atlas of the adult human breast
10.1038/s41586-023-06252-9 · 2023 · External reference
The ensembl variant effect predictor
10.1186/s13059-016-0974-4 · 2016 · External reference
Predicting splicing from primary sequence with deep learning
10.1016/j.cell.2018.12.015 · 2019 · External reference
In silico prediction of splice-altering single nucleotide variants in the human genome
10.1093/nar/gku1206 · 2014 · External reference
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
10.1089/1066527041410418 · 2004 · External reference
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths
10.1002/humu.10295 · 2004 · External reference
