# Genomics and Rare Diseases

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/genomics-and-rare-diseases-2/

## Facts

| Field | Value |
| --- | --- |
| Citations | 814,068 |
| Description | This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | https://openalex.org/T11642 |
| Works | 67,380 |

## Topic institutions

Showing 12 of 20.

- [Harvard University](https://scholariq.org/institutions/harvard-university/)
- [Johns Hopkins University](https://scholariq.org/institutions/johns-hopkins-university/)
- [University of Michigan](https://scholariq.org/institutions/university-of-michigan/)
- [Massachusetts General Hospital](https://scholariq.org/institutions/massachusetts-general-hospital/)
- [Johns Hopkins Medicine](https://scholariq.org/institutions/johns-hopkins-medicine/)
- [Broad Institute](https://scholariq.org/institutions/broad-institute/)
- [Icahn School of Medicine at Mount Sinai](https://scholariq.org/institutions/icahn-school-of-medicine-at-mount-sinai/)
- [Center for Systems Biology](https://scholariq.org/institutions/center-for-systems-biology/)
- [University of Washington](https://scholariq.org/institutions/university-of-washington/)
- [University of Utah](https://scholariq.org/institutions/university-of-utah/)
- [Massachusetts Institute of Technology](https://scholariq.org/institutions/massachusetts-institute-of-technology/)
- [Cold Spring Harbor Laboratory](https://scholariq.org/institutions/cold-spring-harbor-laboratory/)

## Topic researchers

Showing 12 of 20.

- [Eric S. Lander](https://scholariq.org/researchers/eric-s-lander/)
- [Rob Knight](https://scholariq.org/researchers/rob-knight/)
- [George Davey Smith](https://scholariq.org/researchers/george-davey-smith/)
- [Richard Durbin](https://scholariq.org/researchers/richard-durbin/)
- [Mark J. Daly](https://scholariq.org/researchers/mark-j-daly/)
- [Stacey Gabriel](https://scholariq.org/researchers/stacey-gabriel/)
- [Peer Bork](https://scholariq.org/researchers/peer-bork/)
- [Steven L. Salzberg](https://scholariq.org/researchers/steven-l-salzberg/)
- [Bert Vogelstein](https://scholariq.org/researchers/bert-vogelstein/)
- [Gad Getz](https://scholariq.org/researchers/gad-getz/)
- [Elaine R. Mardis](https://scholariq.org/researchers/elaine-r-mardis/)
- [Emelia J. Benjamin](https://scholariq.org/researchers/emelia-j-benjamin/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.