Danecek, Petr

Reference-based phasing using the Haplotype Reference Consortium panel

Loh, P.-R., Danecek, P., Palamara, P. F., Fuchsberger, C., A Reshef, Y., K Finucane, H., Schoenherr, S., Forer, L., McCarthy, S., Abecasis, G. R., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

Cited by 1,723

Mouse genomic variation and its effect on phenotypes and gene regulation.

Keane, T. M., Goodstadt, L., Danecek, P., White, M. A., Wong, K., Yalcin, B., Heger, A., Agam, A., Slater, G., Goodson, M., et al. (2011) · Nature

Genetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

Cited by 1,580

Insights into human genetic variation and population history from 929 diverse genomes

Bergström, A., McCarthy, S. A., Hui, R., Almarri, M. A., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., et al. (2020) · Science

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 1,020

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

Common genetic variation drives molecular heterogeneity in human iPSCs

Kilpinen, H., Goncalves, A., Leha, A., Afzal, V., Alasoo, K., Ashford, S., Bala, S., Bensaddek, D., Casale, F. P., Culley, O. J., et al. (2017) · Nature

Pluripotent Stem Cells ResearchGenetic Associations and Epidemiology

Cited by 586

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

Simon, M. M., Greenaway, S., White, J. K., Fuchs, H., Gailus-Durner, V., Wells, S., Sorg, T., Wong, K., Bedu, E., Cartwright, E. J., et al. (2013) · Genome Biology

Genetic and phenotypic traits in livestockGenetic Mapping and Diversity in Plants and Animals

Cited by 507

BCFtools/csq: haplotype-aware variant consequences

Danecek, P., & McCarthy, S. A. (2017) · Bioinformatics

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 468

Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Cuomo, A. S. E., Seaton, D. D., McCarthy, D. J., Martinez, I., Bonder, M. J., Garcia-Bernardo, J., Amatya, S., Madrigal, P., Isaacson, A., Buettner, F., et al. (2020) · Nature Communications

Pluripotent Stem Cells ResearchSingle-cell and spatial transcriptomics

Cited by 331

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

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians

Pagani, L., Schiffels, S., Gurdasani, D., Danecek, P., Scally, A., Chen, Y., Xue, Y., Haber, M., Ekong, R., Oljira, T., et al. (2015) · The American Journal of Human Genetics

Forensic and Genetic ResearchPleistocene-Era Hominins and Archaeology

Cited by 216

Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences

Haber, M., Doumet-Serhal, C., Scheib, C., Xue, Y., Danecek, P., Mezzavilla, M., Youhanna, S., Martiniano, R., Prado-Martinez, J., Szpak, M., et al. (2017) · The American Journal of Human Genetics

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 117

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells

Rouhani, F. J., Zou, X., Danecek, P., Badja, C., Amarante, T. D., Koh, G., Wu, Q., Memari, Y., Durbin, R., Martincorena, I., et al. (2022) · Nature Genetics

Pluripotent Stem Cells ResearchCRISPR and Genetic Engineering

Cited by 105

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

Very low-depth whole-genome sequencing in complex trait association studies

Gilly, A., Southam, L., Suveges, D., Kuchenbaecker, K., Moore, R., Melloni, G. E. M., Hatzikotoulas, K., Farmaki, A.-E., Ritchie, G., Schwartzentruber, J., et al. (2019) · Bioinformatics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

Cited by 93

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 36

Somatic mutations alter the differentiation outcomes of iPSC-derived neurons

Puigdevall, P., Jerber, J., Danecek, P., Castellano, S., & Kilpinen, H. (2023) · Cell Genomics

Pluripotent Stem Cells ResearchNeurogenesis and neuroplasticity mechanisms

Cited by 29