（1）生殖遗传：使用基因组学、生物信息学、分子生物学等手段，研究生殖细胞及早期胚胎的遗传变异，包括染色体非整倍性、染色体变异、染色体重组、突变累积、转座子变异等；（2）胚胎/产前遗传诊断：开发基于二代及三代测序的胚胎遗传诊断方法，应用于临床实现胚胎/胎儿的遗传诊断，阻断遗传疾病的代间传递。

（1）中国健康管理协会妇幼健康分化，委员

（1）2022年北京市科技进步奖一等奖

（1）ZFHX3在囊胚发育及植入中的作用和机制，国家自然科学基金青年项目，30万

（2）无创染色体非整性检测：临床应用及无创诊断与囊胚常规活检诊断的一致性研究，国际合作项目，68万

（3）脂肪组织对性腺生殖细胞发育的作用及调控机制，国家重点研发计划，513万

[1] Zhai F, Kong S, Song S, Guo Q, Ding L, Zhang J, Wang N, Kuo Y, Guan S, Yuan P#, Yan L#, Yan Z#, Qiao J#. Human embryos harbor complex mosaicism with broad presence of aneuploid cells during early development. Cell Discovery. (2024).

[2] Wang Y*, Li Y*, Zhu X*, Yang M, Liu Y, Wang N, Long C, Kuo Y, Lian Y, Huang Y, Jia J, Wong C, Yan Z#, Yan L#, Qiao J#, Concurrent preimplantation genetic testing and competence assessment of human embryos by transcriptome sequencing, Advanced Science (2024).

[3] Guo Q, Xu F, Song S, Kong S, Zhai F, Xiu Y, Liu D, Li M, Lian Y, Ding L, Liu Q, Yang M, Du Z, Wang N, Long C, Wang X, Wang Y, Yan Z#, Qiao J#, Yan L#, Yuan P#. Allelic transcriptomic profiling identifies the role of PRD-like homeobox genes in human embryonic-cleavage-stage arrest. Developmental Cell. (2024).

[4] Zhang J*, Qin M*, Ma M, Li H, Wang N, Zhu X, Yan L, Qiao J#, Yan Z#, Assessing the necessity of screening ≤ 5 Mb segmental aneuploidy in routine preimplantation genetic testing for aneuploidy, Reproductive Biomedicine Online (2024).

[5] An J*, Wang J*, Kong S, Song S, Chen W, Yuan P, He Q, Chen Y, Li Y, Yang Y, Wang W, Li R, Yan L#, Yan Z#, Qiao J#, GametesOmics: A Comprehensive Multi-omics Database for Exploring the Gametogenesis in Humans and Mice, Genomics, Proteomics & Bioinformatics, (2024).

[6] Gao J*, Yan Z*, Yan L, Zhu X, Jiang H# and Qiao J#, The effect of sperm DNA fragmentation on the incidence and origin of whole and segmental chromosomal aneuploidies in human embryos, Reproduction (2023).

[7] Kuo Y*, Zhu X*, Guo Q, Wang Y, Guan S, Liu P, Li R Yan Z#, Yan L#, and Qiao J#, A novel embryo biopsy morphological analysis and genetic integrality criterion system significantly improves the outcome of preimplantation genetic testing, Journal of Assisted Reproduction and Genetics, (2023).

[8] Zhai F*, WangY, Li H Wang Y, Zhu X, Kuo Y, Guan S, Li J, Song S, He Q, An J, Zhi X, Lian Y, Huang J, Li R, Qiao J, Yan L#, and Yan Z#, Preimplantation genetic testing for structural rearrangement based on low-coverage next-generation sequencing accurately discriminates between normal and carrier embryos for patients with translocations, Reproductive Biomedicine Online (2022).

[9] Ren Y*, Yan Z*, Yang M*, Keller K, Zhu X, Lian Y, Liu Q, Li R Zhai F, Nie Y, Yan L#, Smith GD#, Qiao J#, Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing, Plos Genetics.

[10] Yan Z*, An J*, Peng Y, Kong S, Liu Q, Yang M, He Q, Song S, Chen Y, Chen W, Li R Qiao J#, Yan L#, DevOmics: an integrated multi-omics database of human and mouse early embryo, Briefings in Bioinformatics, (2021).

[11] Wang Y*, Yuan P*, Yan Z*, Yang M*, Huo Y, Nie Y, Zhu X, Qiao J# and Yan L#, Single-cell multiomics sequencing reveals the functional regulatory landscape of early embryos, Nature Communications, (2021).

[12] Huo Y*, Yan Z*, Yuan P, Qin M, Kuo Y, Li R Yan L, Feng H# and Qiao J#, Single-cell DNA methylation sequencing reveals epigenetic alterations in mouse oocytes superovulated with different dosages of gonadotropins, Clinical Epigenetics, (2020).

[13] Wang Y*, Qin M*, Yan Z*, Guan S, Kuo Y, Kong S, Nie Y, Zhu X, Zhi X, Qiao J# and Yan L#, A strategy using SNP linkage analysis for monogenic diseases PGD combined with HLA typing, Clinical Genetics, (2020).

[14] Yan Z*, Zhu X, Wang Y, Nie Y, Guan S, Kuo Y, Chang D, Li R Qiao J# and Yan L#, scHaplotyper: haplotype construction and visualization for genetic diagnosis using single cell DNA sequencing data, Bmc Bioinformatics, (2020).

[15] Zhang Y*, Yan Z*, Qin Q*, Nisenblat V, Chang HM, Yu Y, Wang T, Lu C, Yang M, Yang S, Yao Y, Zhu X, Xia X, Dang Y, Ren Y, Yuan P, Li R, Liu P, Guo H, Han J, He H, Zhang K, Wang Y, Wu Y, Li M, Qiao J, Yan J, Yan L. Transcriptome Landscape of Human Folliculogenesis Reveals Oocyte and Granulosa Cell Interactions. Molecular Cell. 2018

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