Li, Yang I.

Predicting splicing from primary sequence with deep learning

Jaganathan, K., Kyriazopoulou Panagiotopoulou, S., McRae, J. F., Darbandi, S. F., Knowles, D., Li, Y. I., Kosmicki, J. A., Arbelaez, J., Cui, W., Schwartz, G. B., et al. (2019) · Cell

RNA Research and SplicingGenomics and Rare Diseases

Cited by 2,853

An Expanded View of Complex Traits: From Polygenic to Omnigenic

Boyle, E. A., Li, Y. I., & Pritchard, J. K. (2017) · Cell

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 2,851

Expanded encyclopaedias of DNA elements in the human and mouse genomes

The ENCODE Project Consortium, Abascal, F., Acosta, R., Addleman, N. J., Adrian, J., Afzal, V., Ai, R., Aken, B., Akiyama, J. A., Jammal, O. A., et al. (2020) · Nature

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

Cited by 2,378

Annotation-free quantification of RNA splicing using LeafCutter

Li, Y. I., Knowles, D. A., Humphrey, J., Barbeira, A. N., Dickinson, S. P., Im, H. K., & Pritchard, J. K. (2018) · Nature Genetics

RNA Research and SplicingGenomics and Phylogenetic Studies

Cited by 765

G&T-seq: parallel sequencing of single-cell genomes and transcriptomes

Macaulay, I. C., Haerty, W., Kumar, P., Li, Y. I., Hu, T. X., Teng, M. J., Goolam, M., Saurat, N., Coupland, P., Shirley, L. M., et al. (2015) · Nature Methods

Single-cell and spatial transcriptomicsGenomics and Phylogenetic Studies

Cited by 750

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M. J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., et al. (2021) · Science

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 702

RNA splicing is a primary link between genetic variation and disease

Li, Y. I., van de Geijn, B., Raj, A., Knowles, D. A., Petti, A. A., Golan, D., Gilad, Y., & Pritchard, J. K. (2016) · Science

RNA Research and SplicingGenetic Associations and Epidemiology

Cited by 660

Trans effects on gene expression can drive omnigenic inheritance

Liu, X., Li, Y. I., & Pritchard, J. K. (2019) · Cell

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 523

Characterizing the Major Structural Variant Alleles of the Human Genome

Audano, P. A., Sulovari, A., Graves-Lindsay, T. A., Cantsilieris, S., Sorensen, M., Welch, A. E., Dougherty, M. L., Nelson, B. J., Shah, A., Dutcher, S. K., et al. (2019) · Cell

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 492

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility

Raj, T., Li, Y. I., Wong, G., Humphrey, J., Wang, M., Ramdhani, S., Wang, Y.-C., Ng, B., Gupta, I., Haroutunian, V., et al. (2018) · Nature Genetics

RNA Research and SplicingAlzheimer's disease research and treatments

Cited by 410

Predicting RNA splicing from DNA sequence using Pangolin

Zeng, T., & Li, Y. I. (2022) · Genome Biology

RNA Research and SplicingGenomics and Rare Diseases

Cited by 283

Prioritizing Parkinson’s disease genes using population-scale transcriptomic data

Li, Y. I., Wong, G., Humphrey, J., & Raj, T. (2019) · Nature Communications

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 143

Whole transcriptome sequencing of the aging rat brain reveals dynamic RNA changes in the dark matter of the genome

Wood, S. H., Craig, T., Li, Y., Merry, B., & de Magalhães, J. P. (2013) · AGE

Genetics, Aging, and Longevity in Model OrganismsSingle-cell and spatial transcriptomics

Cited by 105

Molecular quantitative trait loci

Aguet, F., Alasoo, K., Li, Y. I., Battle, A., Im, H. K., Montgomery, S. B., & Lappalainen, T. (2023) · Nature Reviews Methods Primers

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 98

Discovery and characterization of variance QTLs in human induced pluripotent stem cells

Sarkar, A. K., Tung, P.-Y., Blischak, J. D., Burnett, J. E., Li, Y. I., Stephens, M., & Gilad, Y. (2019) · PLOS Genetics

Genetic Associations and EpidemiologySingle-cell and spatial transcriptomics

Cited by 72