Diekhans, Mark

Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation

Pujar, S., O’Leary, N. A., Farrell, C. M., Loveland, J. E., Mudge, J. M., Wallin, C., Girón, C. G., Diekhans, M., Barnes, I., Bennett, R., et al. (2018) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBiomedical Text Mining and Ontologies

Cited by 147

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

Comparative Genomics Search for Losses of Long-Established Genes on the Human Lineage

Zhu, J., Sanborn, J. Z., Diekhans, M., Lowe, C. B., Pringle, T. H., & Haussler, D. (2007) · PLoS Computational Biology

Chromosomal and Genetic VariationsGenomics and Phylogenetic Studies

Cited by 129

Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation

Fiddes, I. T., Armstrong, J., Diekhans, M., Nachtweide, S., Kronenberg, Z. N., Underwood, J. G., Gordon, D., Earl, D., Keane, T., Eichler, E. E., et al. (2018) · Genome Research

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 120

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Birgmeier, J., Haeussler, M., Deisseroth, C. A., Steinberg, E. H., Jagadeesh, K. A., Ratner, A. J., Guturu, H., Wenger, A. M., Diekhans, M. E., Stenson, P. D., et al. (2020) · Science Translational Medicine

Genomics and Rare DiseasesBiomedical Text Mining and Ontologies

Cited by 118

Three-dimensional genome rewiring in loci with human accelerated regions

Keough, K. C., Whalen, S., Inoue, F., Przytycki, P. F., Fair, T., Deng, C., Steyert, M., Ryu, H., Lindblad-Toh, K., Karlsson, E., et al. (2023) · Science

Genomics and Chromatin DynamicsChromosomal and Genetic Variations

Cited by 113

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

Cactus Graphs for Genome Comparisons

Paten, B., Diekhans, M., Earl, D., John, J. S., Ma, J., Suh, B., & Haussler, D. (2011) · Journal of Computational Biology

Genome Rearrangement AlgorithmsGenomics and Phylogenetic Studies

Cited by 102

The Share of Human Genomic DNA under Selection Estimated from Human-Mouse Genomic Alignments

CHIAROMONTE, F., WEBER, R. J., ROSKIN, K. M., DIEKHANS, M., KENT, W. J., & HAUSSLER, D. (2003) · Cold Spring Harbor Symposia on Quantitative Biology

Genomics and Phylogenetic StudiesEvolution and Genetic Dynamics

Cited by 64

Evaluating recovery potential of the northern white rhinoceros from cryopreserved somatic cells

Tunstall, T., Kock, R., Vahala, J., Diekhans, M., Fiddes, I., Armstrong, J., Paten, B., Ryder, O. A., & Steiner, C. C. (2018) · Genome Research

Genetic diversity and population structureGenetic and phenotypic traits in livestock

Cited by 50

halSynteny: a fast, easy-to-use conserved synteny block construction method for multiple whole-genome alignments

Krasheninnikova, K., Diekhans, M., Armstrong, J., Dievskii, A., Paten, B., & O'Brien, S. (2020) · GigaScience

Genome Rearrangement AlgorithmsGenomics and Phylogenetic Studies

Cited by 30

Scoring two-species local alignments to try to statistically separate neutrally evolving from selected DNA segments

Roskin, K. M., Diekhans, M., & Haussler, D. (2003) · Proceedings of the seventh annual international conference on Research in computational molecular biology

Genomics and Phylogenetic StudiesFractal and DNA sequence analysis

Cited by 14

Supporting data for "halSynteny: a fast, easy-to-use conserved synteny block construction method for multiple whole-genome alignments"

Krasheninnikova, K., Diekhans, M., Armstrong, J., Dievskii, A., Paten, B., & O’Brien, S. (2020) · GigaScience Database

Genome Rearrangement AlgorithmsGenomics and Phylogenetic Studies

Cited by 0