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Genomics and Rare Diseases

TopicLeading institutions, researchers & key papers

Genomics and Rare Diseases is a topic indexed in PICO Portal from OpenAlex.

What is known about Genomics and Rare Diseases?

PICO Portalrecord summary

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.

How many works does Genomics and Rare Diseases have?

PICO Portalindexed works

Genomics and Rare Diseases has 67,380 works in the PICO Portal index. The count is the OpenAlex total, not the number of papers listed on this page.

How many citations does Genomics and Rare Diseases have?

PICO Portalcitation count

Genomics and Rare Diseases has 814,068 citations in the OpenAlex counts PICO Portal stores.

What is the OpenAlex record for Genomics and Rare Diseases?

PICO Portalopenalex

The OpenAlex for Genomics and Rare Diseases is on the source record.

Who are the most-cited researchers behind Genomics and Rare Diseases?

PICO Portaltop researchers by citations
1
Eric S. Lander · Genomics and Chromatin Dynamics
891 works519,894 citations
2
Rob Knight · Gut microbiota and health
1,788 works461,783 citations
3
George Davey Smith · Genetic Associations and Epidemiology
4,158 works432,522 citations
4
Richard Durbin · Genomics and Phylogenetic Studies
467 works405,762 citations
5
Mark J. Daly · Genetic Associations and Epidemiology
1,233 works402,224 citations

Where is Genomics and Rare Diseases research published, and who funds it?

PICO Portalvenues & funding sources

TOP JOURNALS

No journal data available yet.

TOP FUNDERS

National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
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Who collaborates most closely around Genomics and Rare Diseases?

PICO Portalco-authorship network

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