7 Papers
Yan Lü is an academic researcher from Peking Union Medical College Hospital. The author has contributed to research in topics: Gene & SNP array. The author has co-authored 1 publications.
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Papers
Changes in physical activity across pregnancy among Chinese women: a longitudinal cohort study
TL;DR: PA increased as pregnancy progressed, and walking was the dominant form of PA among Chinese women, and the associations between demographic, pregnancy and health characteristics and PA changes were examined.
Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis
Yan Lü,Yulin Jiang,Xiya Zhou,Na Hao,Guizhen Lü,Xiangxue Guo,Rui Guo,Wenjie Liu,Chenlu Xu,Mengmeng Li,Hanzhe Zhang,Jing Zhou,Victor Wei Zhang,Qing-wei Qi +13 more
TL;DR: In this paper , a new bioinformatic algorithm based on the assessment of minimum sequencing coverage, optimal bin size, the Z-score threshold of four types of allele count and the frequency for accurate genotyping using 28 AOH negative samples, and redefined the AOH detection cutoff value.
Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report
Yan Lü,Yulin Jiang,Xiya Zhou,Na Hao,Chenlu Xu,Ruidong Guo,Jiazhen Chang,Mengmeng Li,Hanzhe Zhang,Jing Zhou,Qingwei Qi +10 more
TL;DR: A new bioinformatic algorithm is developed to accurately distinguish mosaic AOH from constitutional AOH by low-pass WGS in fetal genetic diagnosis, which is consistent with those of the SNP-array-based method.
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Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study
K. Yin,Yan Lü,Hanzhe Zhang,Mengmeng Li,Jiazhen Chang,Xueting Yang,Qingwei Qi,Xiya Zhou,Jiangshan Guo,Yaru Wang,Cuixia Wang,Wei Li,N. Hao,Yulin Jiang +13 more
TL;DR: This retrospective cohort study evaluates the efficacy of optical genome mapping (OGM) in prenatal diagnosis, demonstrating high concordance with routine genetic testing methods and increasing diagnostic rate, particularly in negative cases, suggesting its potential as a first-line technique.
Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review
TL;DR: A case of disseminated form IM (DFIM), a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs, with a diagnosis established on prenatal genetic grounds.