Sigurjón A. Guðjónsson
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- Genomic variations and chromosomal abnormalities
- Cancer-related Molecular Pathways
- Genomics and Phylogenetic Studies
- Gene expression and cancer classification
- Genetic Syndromes and Imprinting
- RNA modifications and cancer
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Evolution and Genetic Dynamics
- Genetic factors in colorectal cancer
- Molecular Biology Techniques and Applications
- Bladder and Urothelial Cancer Treatments
- Bioinformatics and Genomic Networks
- Advanced Proteomics Techniques and Applications
- RNA and protein synthesis mechanisms
- Immune Cell Function and Interaction
- Protein Tyrosine Phosphatases
- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
deCODE Genetics (Iceland)
2015-2025
Michigan Medicine
2024
Amgen (Germany)
2022-2023
American Academy of Dermatology
2016
Park Terrace Care Center
2016
Amgen (United States)
2015
Amgen (Canada)
2015
University of Michigan
2010
Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype whole-genome sequence data on parent-child pairs, we identified 4,531,535 crossover recombinations 200,435 DNMs. The resulting genetic map has resolution 682 base pairs. Crossovers exhibit mutagenic effect, with overrepresentation DNMs within 1 kilobase crossovers in males females. In females, higher rate is observed up to 40 kilobases crossovers, particularly for complex which...
Detailed knowledge of how diversity in the sequence human genome affects phenotypic depends on a comprehensive and reliable characterization both sequences variation. Over past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome large cohorts with rich data1,2. Here we describe analysis 150,119 individuals UK Biobank3. This constitutes set high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% all...