Chang, Pi-Chuan

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Wenger, A. M., Peluso, P., Rowell, W. J., Chang, P.-C., Hall, R. J., Concepcion, G. T., Ebler, J., Fungtammasan, A., Kolesnikov, A., Olson, N. D., et al. (2019) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,841

A universal SNP and small-indel variant caller using deep neural networks

Poplin, R., Chang, P.-C., Alexander, D., Schwartz, S., Colthurst, T., Ku, A., Newburger, D., Dijamco, J., Nguyen, N., Afshar, P. T., et al. (2018) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 1,840

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

Towards Generalist Biomedical AI

Tu, T., Azizi, S., Driess, D., Schaekermann, M., Amin, M., Chang, P.-C., Carroll, A., Lau, C., Tanno, R., Ktena, I., et al. (2023) · arXiv

Artificial Intelligence in Healthcare and EducationMultimodal Machine Learning Applications

Cited by 483

Towards Generalist Biomedical AI

Tu, T., Azizi, S., Driess, D., Schaekermann, M., Amin, M., Chang, P.-C., Carroll, A., Lau, C., Tanno, R., Ktena, I., et al. (2024) · NEJM AI

Artificial Intelligence in Healthcare and EducationMultimodal Machine Learning Applications

Cited by 483

Pangenomics enables genotyping of known structural variants in 5202 diverse genomes

Sirén, J., Monlong, J., Chang, X., Novak, A. M., Eizenga, J. M., Markello, C., Sibbesen, J. A., Hickey, G., Chang, P.-C., Carroll, A., et al. (2021) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 400

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

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

Olson, N. D., Wagner, J., McDaniel, J., Stephens, S. H., Westreich, S. T., Prasanna, A. G., Johanson, E., Boja, E., Maier, E. J., Serang, O., et al. (2022) · Cell Genomics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 202

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

DeepTrio: Variant Calling in Families Using Deep Learning

Brambrink, L., Kolesnikov, A., Goel, S., Nattestad, M., Yun, T., Baid, G., Yang, H., McLean, C., Shafin, K., Chang, P.-C., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 32