Aarno Palotie
- Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
2015/10/01 by Bjarni J. Vilhjálmsson, Bjarni J. Vilhjálmsson, Jian Yang +438 · 52 citations
Biochemistry, Genetics and Molecular Biology · Mathematics · #Genetic Associations and Epidemiology #Bioinformatics and Genomic Networks #Advanced Causal Inference Techniques
- 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 · 68 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics #Genomics and Rare Diseases
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
2020/01/23 by F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang +97 · 40 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Autism Spectrum Disorder Research #Congenital heart defects research #Genetics and Neurodevelopmental Disorders
- Integrating common and rare genetic variation in diverse human populations
2010/08/31 by David Altshuler, S. F. Schaffner, Stacey B. Gabriel +57 · 11 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- A cross-population atlas of genetic associations for 220 human phenotypes
2021/09/30 by Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa +45 · 27 citations
Biochemistry, Genetics and Molecular Biology · #Bioinformatics and Genomic Networks #Gene expression and cancer classification #Genetic Associations and Epidemiology
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2022/08/18 by Jack Fu, Jack M. Fu, F. Kyle Satterstrom +136 · 12 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Autism Spectrum Disorder Research #Congenital heart defects research #Genomic variations and chromosomal abnormalities
- Systematic comparison of family history and polygenic risk across 24 common diseases
2022/11/07 by Nina Mars, Joni V. Lindbohm, Pietro Della Briotta Parolo +4 · 1 voice · 6 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #BRCA gene mutations in cancer #Genomics and Rare Diseases
- Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland
2019/05/30 by Sini Kerminen, Alicia R. Martin, Jukka Koskela +10 · 27 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic Associations and Epidemiology #Liver Disease Diagnosis and Treatment #Genetic and phenotypic traits in livestock
- Rare coding variants in ten genes confer substantial risk for schizophrenia
2022/04/08 by Tarjinder Singh, Timothy Poterba, David Curtis +97 · 1 voice · 6 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- 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
- Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers
2021/08/03 by Antti Palomäki, Aarno Palotie, Jukka Koskela +6 · 16 citations
Medicine · #Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis #Antifungal resistance and susceptibility #Pneumocystis jirovecii pneumonia detection and treatment