Flicek, Paul

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Making sense of big data in health research: towards an EU action plan

Auffray, C., Balling, R., Barroso, I., Bencze, L., Benson, M., Bergeron, J., Bernal-Delgado, E., Blomberg, N., Bock, C., Conesa, A., et al. (2016) · Genome Medicine

Electronic Health Records SystemsBig Data Technologies and Applications

Cited by 286

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 283

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

Lilue, J., Doran, A. G., Fiddes, I. T., Abrudan, M., Armstrong, J., Bennett, R., Chow, W., Collins, J., Collins, S., Czechanski, A., et al. (2018) · Nature Genetics

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 267

A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain

Joglekar, A., Prjibelski, A., Mahfouz, A., Collier, P., Lin, S., Schlusche, A. K., Marrocco, J., Williams, S. R., Haase, B., Hayes, A., et al. (2021) · Nature Communications

RNA Research and SplicingSingle-cell and spatial transcriptomics

Cited by 229

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Morales, J., Welter, D., Bowler, E. H., Cerezo, M., Harris, L. W., McMahon, A. C., Hall, P., Junkins, H. A., Milano, A., Hastings, E., et al. (2018) · Genome Biology

Race, Genetics, and SocietyGenetic Associations and Epidemiology

Cited by 217

Spatial enhancer clustering and regulation of enhancer-proximal genes by cohesin

Ing-Simmons, E., Seitan, V. C., Faure, A. J., Flicek, P., Carroll, T., Dekker, J., Fisher, A. G., Lenhard, B., & Merkenschlager, M. (2015) · Genome Research

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 167

The BLUEPRINT Data Analysis Portal

Fernández, J. M., de la Torre, V., Richardson, D., Royo, R., Puiggròs, M., Moncunill, V., Fragkogianni, S., Clarke, L., Flicek, P., Rico, D., et al. (2016) · Cell Systems

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

Cited by 151

Recombination between heterologous human acrocentric chromosomes

Guarracino, A., Buonaiuto, S., de Lima, L. G., Potapova, T., Rhie, A., Koren, S., Rubinstein, B., Fischer, C., Human Pangenome Reference Consortium, Abel, H. J., et al. (2023) · Nature

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 134

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Increased mutation and gene conversion within human segmental duplications

Vollger, M. R., Dishuck, P. C., Harvey, W. T., DeWitt, W. S., Guitart, X., Goldberg, M. E., Rozanski, A. N., Lucas, J., Asri, M., Human Pangenome Reference Consortium, et al. (2023) · Nature

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 104

Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways

Ballester, B., Medina-Rivera, A., Schmidt, D., Gonzàlez-Porta, M., Carlucci, M., Chen, X., Chessman, K., Faure, A. J., Funnell, A. P., Goncalves, A., et al. (2014) · eLife

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 96

The human-induced pluripotent stem cell initiative-data resources for cellular genetics

Streeter, I., Harrison, P. W., Faulconbridge, A., The HipSci Consortium, Flicek, P., Parkinson, H., & Clarke, L. (2017) · Nucleic Acids Research

Pluripotent Stem Cells ResearchResearch Data Management Practices

Cited by 92

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

Watt, S., Vasquez, L., Walter, K., Mann, A. L., Kundu, K., Chen, L., Sims, Y., Ecker, S., Burden, F., Farrow, S., et al. (2021) · Nature Communications

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 63

Erratum to: Making sense of big data in health research: towards an EU action plan

Auffray, C., Balling, R., Barroso, I., Bencze, L., Benson, M., Bergeron, J., Bernal-Delgado, E., Blomberg, N., Bock, C., Conesa, A., et al. (2016) · Genome Medicine

Research Data Management PracticesBig Data Technologies and Applications

Cited by 29