Puiu, Daniela

A draft human pangenome reference.

Liao, W.-W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., et al. (2023) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,129

Multi-platform next-generation sequencing of the domestic turkey (Meleagris gallopavo): genome assembly and analysis

Dalloul, R. A., Long, J. A., Zimin, A. V., Aslam, L., Beal, K., Ann Blomberg, L., Bouffard, P., Burt, D. W., Crasta, O., Crooijmans, R. P. M. A., et al. (2010) · PLoS Biology

Genomics and Phylogenetic StudiesGenetic and phenotypic traits in livestock

Cited by 416

Pangenome graph construction from genome alignments with Minigraph-Cactus

Hickey, G., Monlong, J., Ebler, J., Novak, A. M., Eizenga, J. M., Gao, Y., Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Asri, M., et al. (2024) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 343

Semi-automated assembly of high-quality diploid human reference genomes

Jarvis, E. D., Formenti, G., Rhie, A., Guarracino, A., Yang, C., Wood, J., Tracey, A., Thibaud-Nissen, F., Vollger, M. R., Porubsky, D., et al. (2022) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 209

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

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

Quantifying constraint in the human mitochondrial genome

Lake, N. J., Liu, W., Battle, S. L., Laricchia, K. M., Tiao, G., Puiu, D., Compton, A. G., Cowie, S., Christodoulou, J., Thorburn, D. R., et al. (2022) · Nature

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 63

Quantifying constraint in the human mitochondrial genome

Lake, N. J., Ma, K., Liu, W., Battle, S. L., Laricchia, K. M., Tiao, G., Puiu, D., Ng, K. K., Cohen, J., Compton, A. G., et al. (2024) · Nature

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 63

CHESS 3: an improved, comprehensive catalog of human genes and transcripts based on large-scale expression data, phylogenetic analysis, and protein structure

Varabyou, A., Sommer, M. J., Erdogdu, B., Shinder, I., Minkin, I., Chao, K.-H., Park, S., Heinz, J., Pockrandt, C., Shumate, A., et al. (2023) · Genome Biology

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 54

CHESS 3: an improved, comprehensive catalog of human genes and transcripts based on large-scale expression data, phylogenetic analysis, and protein structure

Varabyou, A., Sommer, M. J., Erdogdu, B., Shinder, I., Minkin, I., Chao, K.-H., Park, S., Heinz, J., Pockrandt, C., Shumate, A., et al. (2022) · Genome biology

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 54