Danish Saleheen
- A genomic mutational constraint map using variation in 76,156 human genomes
2023/12/06 by Siwei Chen, Laurent C. Francioli, Julia K. Goodrich +254 · 71 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics #Genomics and Rare Diseases
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
2017/04/01 by Danish Saleheen, Pradeep Natarajan, Irina M. Armean +42 · 3 citations
Biochemistry, Genetics and Molecular Biology · #Cancer-related gene regulation #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- 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
- The genetic architecture of type 2 diabetes
2016/07/11 by Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich +314 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Allele #Allele frequency #Bioinformatics and Genomic Networks #Biology #DNA sequencing #Diabetes mellitus #Epigenetics and DNA Methylation #Exome #Exome sequencing #Gene #Genetic Associations and Epidemiology #Genetic architecture #Genetic association #Genetics #Genome #Genome-wide association study #Genotype #Genotyping #Heritability #Imputation (statistics) #Minor allele frequency #Missing data #Missing heritability problem #Mutation #Quantitative trait locus #Single-nucleotide polymorphism #Type 2 diabetes #Whole genome sequencing
- Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease
2019/11/01 by Derek Klarin, Veterans Affairs’ Million Veteran Program, Emma Busenkell +51 · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biobank #Bioinformatics #Biology #Blood Coagulation and Thrombosis Mechanisms #Disease #Factor V Leiden #Gene #Genetic Associations and Epidemiology #Genetic association #Genetics #Genome-wide association study #Genotype #Internal medicine #Medicine #Population #Prothrombin G20210A #Single-nucleotide polymorphism #Thrombosis #Venous Thromboembolism Diagnosis and Management #Venous thromboembolism #Venous thrombosis
- 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