Nora Franceschini
- Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
2021/02/10 by Daniel Taliun, Daniel Harris, Michael D. Kessler +97 · 60 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #RNA Research and Splicing
- Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution
2017/07/14 by Reedik Mägi, Momoko Horikoshi, Tamar Sofer +5 · 7 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock
- Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data
2022/03/01 by Pierrick Wainschtein, Deepti Jain, Zhili Zheng +490 · 3 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
2020/08/24 by Xihao Li, Zilin Li, Hufeng Zhou +450 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
2022/10/27 by Zilin Li, Xihao Li, Hufeng Zhou +531 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Bioinformatics and Genomic Networks #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
2022/12/23 by Xihao Li, Corbin Quick, Hufeng Zhou +448 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Bioinformatics and Genomic Networks #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- Prevention and treatment strategies for glucocorticoid-induced osteoporotic fractures
2006/05/03 by Margaret Gourlay, Margaret L. Gourlay, Nora Franceschini +1 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Bone Metabolism and Diseases #Bone health and osteoporosis research #Bone health and treatments
- Genetic insights into biological mechanisms governing human ovarian ageing
2021/08/04 by Katherine S. Ruth, Felix R. Day, Jazib Hussain +282 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetics, Aging, and Longevity in Model Organisms #Nutrition, Genetics, and Disease #Reproductive Biology and Fertility