Gazal, Steven

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

Finucane, H. K., Reshef, Y. A., Anttila, V., Slowikowski, K., Gusev, A., Byrnes, A., Gazal, S., Loh, P.-R., Lareau, C., Shoresh, N., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 1,097

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

Kichaev, G., Bhatia, G., Loh, P.-R., Gazal, S., Burch, K., Freund, M. K., Schoech, A., Pasaniuc, B., & Price, A. L. (2019) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 926

Mixed model association for biobank-scale data sets

Loh, P.-R., Kichaev, G., Gazal, S., Schoech, A. P., & Price, A. L. (2017) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 788

Mixed-model association for biobank-scale datasets

Loh, P.-R., Kichaev, G., Gazal, S., Schoech, A. P., & Price, A. L. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 758

Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection

Gazal, S., Finucane, H. K., Furlotte, N. A., Loh, P.-R., Palamara, P. F., Liu, X., Schoech, A., Bulik-Sullivan, B., Neale, B. M., Gusev, A., et al. (2017) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 525

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Ishigaki, K., Akiyama, M., Kanai, M., Takahashi, A., Kawakami, E., Sugishita, H., Sakaue, S., Matoba, N., Low, S.-K., Okada, Y., et al. (2020) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 508

Functionally informed fine-mapping and polygenic localization of complex trait heritability

Weissbrod, O., Hormozdiari, F., Benner, C., Cui, R., Ulirsch, J., Gazal, S., Schoech, A. P., van de Geijn, B., Reshef, Y., Márquez-Luna, C., et al. (2020) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 364

Extreme Polygenicity of Complex Traits Is Explained by Negative Selection

O'Connor, L. J., Schoech, A. P., Hormozdiari, F., Gazal, S., Patterson, N., & Price, A. L. (2019) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 268

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

Haplotype Reference Consortium, Evans, L. M., Tahmasbi, R., Vrieze, S. I., Abecasis, G. R., Das, S., Gazal, S., Bjelland, D. W., de Candia, T. R., Goddard, M. E., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 239

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

Jagadeesh, K. A., Dey, K. K., Montoro, D. T., Mohan, R., Gazal, S., Engreitz, J. M., Xavier, R. J., Price, A. L., & Regev, A. (2022) · Nature Genetics

Genetic Associations and EpidemiologySingle-cell and spatial transcriptomics

Cited by 239

Integrating gene annotation with orthology inference at scale

Kirilenko, B. M., Munegowda, C., Osipova, E., Jebb, D., Sharma, V., Blumer, M., Morales, A. E., Ahmed, A.-W., Kontopoulos, D.-G., Hilgers, L., et al. (2023) · Science

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 209

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

Gazal, S., Weissbrod, O., Hormozdiari, F., Dey, K. K., Nasser, J., Jagadeesh, K. A., Weiner, D. J., Shi, H., Fulco, C. P., O’Connor, L. J., et al. (2022) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 181

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

Schoech, A. P., Jordan, D. M., Loh, P.-R., Gazal, S., O’Connor, L. J., Balick, D. J., Palamara, P. F., Finucane, H. K., Sunyaev, S. R., & Price, A. L. (2019) · Nature Communications

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 157

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

Gazal, S., Loh, P.-R., Finucane, H. K., Ganna, A., Schoech, A., Sunyaev, S., & Price, A. L. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 154

Population-specific causal disease effect sizes in functionally important regions impacted by selection

Shi, H., Gazal, S., Kanai, M., Koch, E. M., Schoech, A. P., Siewert, K. M., Kim, S. S., Luo, Y., Amariuta, T., Huang, H., et al. (2021) · Nature Communications

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 119

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

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

Reshef, Y. A., Finucane, H. K., Kelley, D. R., Gusev, A., Kotliar, D., Ulirsch, J. C., Hormozdiari, F., Nasser, J., O’Connor, L., van de Geijn, B., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 68

The lingering effects of Neanderthal introgression on human complex traits

Wei, X., Robles, C. R., Pazokitoroudi, A., Ganna, A., Gusev, A., Durvasula, A., Gazal, S., Loh, P.-R., Reich, D., & Sankararaman, S. (2023) · eLife

Genetic Associations and EpidemiologyPleistocene-Era Hominins and Archaeology

Cited by 43