From the Guidelines
The Genome Reference Consortium human build 37 (GRCh 37) is a standardized assembly of the human genome released in 2009, serving as a reference point for genetic research and clinical applications. This reference genome represents the complete DNA sequence of a human genome, organized into chromosomes with specific coordinates for each genetic element 1. It is widely used in genetic testing, research publications, and databases to ensure consistency when identifying genetic variants. Although a newer version (GRCh38) was released in 2013, GRCh37 remains commonly used in many clinical and research settings due to the large amount of existing data mapped to it.
Key Points
- GRCh37 is a standardized assembly of the human genome released in 2009 1
- It serves as a reference point for genetic research and clinical applications
- GRCh37 represents the complete DNA sequence of a human genome, organized into chromosomes with specific coordinates for each genetic element
- It is widely used in genetic testing, research publications, and databases to ensure consistency when identifying genetic variants
- Understanding which reference genome is being used is crucial when interpreting genetic test results, as the coordinates and annotations can differ between versions, potentially affecting clinical decisions based on genetic information 1 Some of the key considerations when using GRCh37 include:
- The choice of human reference genome and transcripts for mapping and variant calling has a direct impact on testing accuracy 1
- Clinical laboratories primarily use GRCh37/hg19 or GRCh38/hg38 human reference genome 1
- The use of clinically relevant transcripts is critical for accurate variant calling and its predicted effect on the gene/protein 1
- The National Center for Biotechnology Information (NCBI) and Ensembl/GENCODE created consensus transcripts through the Matched Annotation by NCBI and EMBL-EBI (MANE) project for all genes without technical limitations 1
From the Research
Definition of GRCh 37
- The Genome Reference Consortium human build 37 (GRCh 37) is not defined in the provided studies 2, 3, 4, 5, 6.
Relevance of Provided Studies
- The provided studies focus on BRCA1 and BRCA2 genetic testing, breast cancer, and genetic counseling, but do not mention the Genome Reference Consortium human build 37 (GRCh 37) 2, 3, 4, 5, 6.