Irina M. Armean
- The mutational constraint spectrum quantified from variation in 141,456 humans
2020/05/27 by Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao +97 · 196 citations
Biochemistry, Genetics and Molecular Biology · #CRISPR and Genetic Engineering #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- Ensembl 2022
2021/10/19 by Fiona Cunningham, James E. Allen, Jamie Allen +92 · 50 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Phylogenetic Studies #Molecular Biology Techniques and Applications #RNA and protein synthesis mechanisms
- 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
- Ensembl 2021
2020/10/07 by Kevin Howe, Premanand Achuthan, James E. Allen +76 · 29 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Phylogenetic Studies #Bioinformatics and Genomic Networks #Molecular Biology Techniques and Applications
- 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