"Genome, Human" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
| Descriptor ID |
D015894
|
| MeSH Number(s) |
G05.360.340.350
|
| Concept/Terms |
Genome, Human- Genome, Human
- Human Genome
- Genomes, Human
- Human Genomes
|
Below are MeSH descriptors whose meaning is more general than "Genome, Human".
Below are MeSH descriptors whose meaning is more specific than "Genome, Human".
This graph shows the total number of publications written about "Genome, Human" by people in this website by year, and whether "Genome, Human" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 3 | 0 | 3 |
| 2023 | 1 | 1 | 2 |
| 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Genome, Human" by people in Profiles.
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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Hum Mol Genet. 2024 04 08; 33(8):724-732.
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ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification. Am J Hum Genet. 2024 01 04; 111(1):24-38.
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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. Am J Hum Genet. 2023 07 06; 110(7):1046-1067.
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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592.
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568.
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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018 11; 39(11):1517-1524.
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104.
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ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.