Andrea Ganna
- 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
- FinnGen provides genetic insights from a well-phenotyped isolated population
2023/01/18 by Mitja Kurki, Juha Karjalainen, Priit Palta +97 · 62 citations
Biochemistry, Genetics and Molecular Biology · #BRCA gene mutations in cancer #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- 50,000 years of Evolutionary History of India: Insights from ~2,700 Whole Genome Sequences
2024/02/17 by Élise Kerdoncuff, Laurits Skov, Nick Patterson +10 · 1 voice · 6 citations
Biochemistry, Genetics and Molecular Biology · Arts and Humanities · #Forensic and Genetic Research #Forensic Anthropology and Bioarchaeology Studies #Genetic diversity and population structure
- Rare coding variants in ten genes confer substantial risk for schizophrenia
2022/04/08 by Tarjinder Singh, Timothy Poterba, David Curtis +97 · 1 voice · 8 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- 50,000 years of evolutionary history of India: Impact on health and disease variation
2025/06/01 by Élise Kerdoncuff, Laurits Rohden Skov, Nick Patterson +29 · 1 voice · 8 citations
Health Professions · Medicine · #Global Health and Epidemiology #Zoonotic diseases and public health
- Genetic drivers and cellular selection of female mosaic X chromosome loss
2024/06/12 by Aoxing Liu, Giulio Genovese, Yajie Zhao +116 · 1 voice · 3 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Immune Cell Function and Interaction #T-cell and B-cell Immunology
- Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior
2019/08/29 by Andrea Ganna, Karin J. H. Verweij, Michel G. Nivard +17 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #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
- Removing genetic effects on plasma proteins enhances their utility as disease biomarkers
2025/10/15 by Daniela Fusco, Zhijian Yang, Essi Viippola +10 · 1 voice · 1 citation
Medicine · #Biobank #Biomarker #Biomarker discovery #Blood proteins #Disease #Genetic association #Genetic variants #Genetic variation #Hemoglobinopathies and Related Disorders #Iron Metabolism and Disorders