Article

Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease

2023-03-10

Abstract excerpt

Although thousands of genomic regions have been associated with heritable human diseases, attempts to elucidate biological mechanisms are impeded by a general inability to discern which genomic positions are functionally important. Evolutionary constraint is a powerful predictor of function that is agnostic to cell type or disease mechanism. Here, single base phyloP scores from the whole genome alignment of 240 pl...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1c8f1bb6-47c9-57e6-b0f1-421394ff2339
DOI: 10.1101/2023.03.10.531987

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human DiseaseDOI 10.1101/2023.03.10.531987Read

Leveraging base-pair mammalian constraint to understand genetic variation and human disease.Semantic proximity Read

Evolutionary constraint and innovation across hundreds of placental mammalsSemantic proximity Read

A genome-wide mutational constraint map quantified from variation in 76,156 human genomesSemantic proximity Read

Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discoverySemantic proximity Read

The human functional genome defined by genetic diversitySemantic proximity Read

A genomic mutational constraint map using variation in 76,156 human genomes.Semantic proximity Read

The landscape of gene loss and missense variation across the mammalian tree informs on gene essentialitySemantic proximity Read

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.Semantic proximity Read

A map of constrained coding regions in the human genomeSemantic proximity Read

No gene in the genome makes sense except in the light of evolution.Semantic proximity Read

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.Semantic proximity Read

Epigenetic constraint of cellular genomes evolutionarily links genetic variation to functionSemantic proximity Read