Brian Custer
- Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
2021/02/10 by Daniel Taliun, Daniel Harris, Michael D. Kessler +97 · 59 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #RNA Research and Splicing
- Variation in Neonatal Transfusion Practice
2021/04/07 by Ravi M. Patel, Jeanne E. Hendrickson, Marianne E. Nellis +41 · 27 citations
Medicine · #Neonatal Respiratory Health Research #Neonatal Health and Biochemistry #Hemoglobinopathies and Related Disorders
- 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 · 2 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