Michael Boehnke
- 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
- Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003/04/25 by Maria Eriksson, W. Ted Brown, Leslie B. Gordon +19 · 27 citations
Biochemistry, Genetics and Molecular Biology · #DNA Repair Mechanisms #Nuclear Structure and Function #RNA Research and Splicing
- Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
2021/02/10 by Daniel Taliun, Daniel Harris, Michael D. Kessler +97 · 60 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #RNA Research and Splicing
- Finding the missing heritability of complex diseases
2009/10/01 by Teri A. Manolio, Francis S. Collins, Nancy J. Cox +25 · 45 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Rare-Variant Association Analysis: Study Designs and Statistical Tests
2014/07/01 by Seunggeung Lee, Seunggeun Lee, Gonçalo R. Abecasis +3 · 46 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Computational biology #Computer science #Disease #Gene #Genetic Associations and Epidemiology #Genetic association #Genetics #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Genotype #Genotyping #Heritability #Imputation (statistics) #Machine learning #Medicine #Missing data #Pathology #Population stratification #Single-nucleotide polymorphism #Trait
- 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
- Next-generation genotype imputation service and methods
2016/08/29 by Sayantan Das, Lukas Forer, Sebastian Schönherr +18 · 19 citations
- A reference panel of 64,976 haplotypes for genotype imputation
2016/08/22 by Shane McCarthy, Yang Luo, Arthur Gilly +97 · 23 citations
Biochemistry, Genetics and Molecular Biology · #Gene expression and cancer classification #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals
- Hundreds of variants clustered in genomic loci and biological pathways affect human height
2010/09/29 by Hana Lango Allen, Karol Estrada, Guillaume Lettre +308 · 18 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock
- Large-scale association analyses identify host factors influencing human gut microbiome composition
2021/01/18 by Alexander Kurilshikov, Carolina Medina-Gomez, Carolina Medina‐Gómez +125 · 16 citations
Biochemistry, Genetics and Molecular Biology · Health Professions · Medicine · #Food Security and Health in Diverse Populations #Gut microbiota and health #Nutritional Studies and Diet
- Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders
2018/11/01 by Symen Ligthart, Ahmad Vaez, Urmo Võsa +341 · 26 citations
Biochemistry, Genetics and Molecular Biology · Health Professions · Immunology and Microbiology · #1000 Genomes Project #Adolescent and Pediatric Healthcare #Bioinformatics #Biology #Biomarker #C-reactive protein #Gene #Genetic Associations and Epidemiology #Genetic association #Genetic variants #Genetics #Genome-wide association study #Genotype #IL-33, ST2, and ILC Pathways #Immunology #Inflammation #International HapMap Project #Mendelian randomization #Single-nucleotide polymorphism
- 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
- Integrated Mapping Analysis of the Werner Syndrome Region of Chromosome 8
1994/09/01 by Junko Oshima, Chang-En Yu, Michael Boehnke +9 · 1 citation
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #DNA Repair Mechanisms #Microtubule and mitosis dynamics