The National Genome Database of the Danish National Genome Center comprises data from 5 generic and 17 specialised patient groups (mutually exclusive), containing patients of all ages. For patient groups covering only patients under 18 years of age, genomic analyses were also performed on at least one, and often two, adult family members (duo or trio analyses). The generic groups are: Rare diseases, Complex diseases, Fetal medicine, Cancer and Other. The specialized groups are: Hereditary heart diseases, Hereditary haematological diseases, Hereditary cholestatic and fibrotic liver diseases, Audio genetics, Endocrinological patients, Fetal medicine, Neurogenetic patients, Kidney failure, Ophthalmology, Primary immune deficiency, Psychiatry (children and young people), Severe hereditary skin diseases, Rare diseases in children and young people under 18 years, Rare diseases in adults, Cancer: Children and young people, Cancer: Haematological cancer, Cancer: Young adults (18-30 years) and adults with hereditary cancer, Cancer: Advanced and incurable cancer.
Danish National Genome Center
Genome of Europe Open Dataset from Danish National Genome Database
A subset of 1414 healthy patients from the Danish National Genomic Database. The Danish National Genomic Database consists of 38,000+ patients treated in the Danish healthcare system from 2019- (ongoing). Data includes raw sequencing data (FASTQ for all patients; CRAM and VCF files for most)
genome
genomics
whole genome sequencing
Genome of Europe Open Dataset from Danish National Genome Database for Researchers
A distribution of a public dataset for Genome of Europe, based on data from the Danish National Genome Database. The dataset identifies the variants, populations and allele frequencies.
Population groups defined by sex and birthyear
population
population group
birthyear
age
sex
Identificator (UUID) of a single population group, defining age and sex. Empty values indicate this as a overall grouping transcending sex or specific age range.
Birthyear (YYYY, ex 1995), originally inferred by the structural rules of the CPR
Sex (female, male), originally inferred by the structural rules of the CPR.
Defining unique variants by chromosome, position and varant types
variant
chromosome
position
Identificator (UUID) of a single variant, defining chromosome, vaiant position, reference allele, alternate allele, variant type and rsid.
Chromosome label (e.g., chr1,chr22, chrX, chrY, chrMT).
1-based coordinate on the declared reference genome assembly.
Reference allele.
Alternate allele.
External unique, stable identifier assigned by the dbSNP database, if available.
Identifies variant alterations as insertion/deletions, translocations or inversions.
Identificator (UUID) of a single allele frequency for a specific variant and population group.
allele
frequency
frequencies
homozygous
heterozygous
Technical field. Foreign Key linking the tables frequency and variant together.
Technical field. Foreign Key linking the tables frequency and population together.
Total number of alternate alleles observed for this patient group (AC).
Total number of alleles for this population group (AN).
Allele frequency computed as AC/AN.
Count of homozygous reference genotypes.
Count of heterozygous genotypes.
Count of homozygous alternate genotypes.
Variant QC filter flag (e.g., PASS).
Aggregated quality score / confidence metric.