Bjarni A. Atlason
A5050765415- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Health, Environment, Cognitive Aging
- Genetics, Aging, and Longevity in Model Organisms
- Genomics and Phylogenetic Studies
- Digestive system and related health
- Genetic Syndromes and Imprinting
deCODE Genetics (Iceland)
2019-2023
Amgen (Germany)
2023
In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended reporting actionable genotypes in 73 genes associated with diseases for which preventive or therapeutic measures are available. Evaluations association these life span currently lacking. We assessed prevalence coding splice variants on ACMG Secondary Findings, version 3.0 (ACMG SF v3.0), list genomes 57,933 Icelanders. assigned pathogenicity to all reviewed using reported evidence ClinVar database, frequency...
Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source genetic diversity. We generated LRS data on 3,622 Icelanders using Oxford Nanopore Technologies, and identified median 22,636 SVs per individual (a 13,353 insertions 9,474 deletions), spanning 10 Mb haploid genome. discovered set 133,886 reliably genotyped SV alleles imputed them into 166,281 individuals explore their effects diseases other traits. an association with rare (AF =...
Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit homozygosity 1.52 million from six European populations. In this study, identified 25 genes harboring protein-altering a strong (10% or less predicted homozygotes). Sequence in 12 the cause Mendelian disease under mode inheritance, two dominant mode, but remaining 11 have...