Genomics and Rare Diseases

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.

Journals publishing in this area

1

The American Journal of Human Genetics

ISSN 0002-9297826 articles in this topic

387h-index

5.79Impact

11.1KArticles

1MCitations

2

Journal of Medical Genetics

Journal of Medical Genetics

ISSN 0022-2593629 articles in this topic

246h-index

2.57Impact

11.3KArticles

499KCitations

3

Nature Genetics

ISSN 1061-4036462 articles in this topic

780h-index

14.78Impact

11.7KArticles

2.9MCitations

4

Epilepsia

ISSN 0013-9580444 articles in this topic

284h-index

3.61Impact

18.1KArticles

846.1KCitations

5

Nature Reviews Genetics

ISSN 1471-0056288 articles in this topic

524h-index

14.46Impact

5KArticles

900.2KCitations

6

Genome Research

Genome Research

ISSN 1088-9051194 articles in this topic

409h-index

7.09Impact

6.4KArticles

1.1MCitations

7

Genome biology

ISSN 1474-7596182 articles in this topic

363h-index

7.95Impact

5.9KArticles

972.4KCitations