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Human Genome GRCh38 Summary Data
Synthetic Biology & Genetic Engineering
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About
The official human reference genome assembly, Genome Reference Consortium Human Build 38 (GRCh38), encompasses the complete set of DNA instructions located within the cell's nucleus and mitochondria. This data collection facilitates the exploration of the 23 pairs of chromosomes and provides essential insights into gene expression, where encoded information transforms into function via RNA transcription. The files enable the analysis of gene variants—permanent changes in DNA sequences—allowing for the identification of potential disease risks and the study of conditions such as cancer. It serves as a fundamental resource for understanding human development and function through genomic, transcript, and protein data.
Columns
- ID: The Gene Entrez ID, serving as a unique, species-specific integer identifier for genes.
- Sequence_len: Represents the length of the genomic sequence associated with the entry.
- Description: A textual explanation of the gene or chromosome, such as 'Homo sapiens chromosome 1, GRCh38.p14 Primary Assembly'.
Distribution
- Format: CSV (GRCh38_latest_genomic_summary.csv)
- Size: 93.38 kB
- Structure: The summary file contains 705 unique valid records with 3 columns.
- Note: The broader collection splits stages of the genome, transcription, and protein into separate files.
Usage
- Prescribing customised medical treatments based on genomic profiles.
- Determining genetic risks for various conditions.
- Diagnosing rare genetic diseases.
- Checking gene variants and mutations alongside NCBI sequence lists.
- Predicting diseases and monitoring stages of illnesses such as cancer.
Coverage
- Subject: Homo sapiens (Human).
- Scientific Standard: Genome Reference Consortium Human Build 38 (GRCh38/hg38).
- Scope: Covers the entire set of DNA instructions, including nuclear and mitochondrial chromosomes.
License
Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)
Who Can Use It
- Bioinformatics Scientists: For analysing sequence data and gene variants.
- Medical Researchers: For investigating disease markers and cancer stages.
- Geneticists: For studying hereditary conditions and gene expression.
- Pharmaceutical Developers: For creating customised therapies.
Dataset Name Suggestions
- Human Genome GRCh38 Summary Data
- Homo Sapiens Gene and Transcript Reference
- Human Genomic Sequence and Variant Analysis
- GRCh38 Assembly and Gene Expression Data
Attributes
Original Data Source: Human Genome GRCh38 Summary Data
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