Article

Pathogenicity and selective constraint in the non-coding genome

2019-01-01

Abstract excerpt

Gene regulation plays a central role in evolution, organismal development, and disease. Despite the critical importance of gene regulation throughout development, there have been few genetic variants in regulatory elements with large effects that have been robustly associated to disease. In this work, my overarching aim was to gain a better understanding of the contribution of genetic variation in regulatory eleme...

Topics

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

Identifiers and source

Literature Corpus work: b6b80b30-0ccd-52c0-ab8f-389f98b83123
DOI: 10.17863/cam.36953

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pathogenicity and selective constraint in the non-coding genomeDOI 10.17863/cam.36953Read

Regulatory variation and evolution: implications for disease.Semantic proximity Read

Personal and population genomics of human regulatory variation.Semantic proximity Read

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

Principles and methods of in-silico prioritization of non-coding regulatory variants.Semantic proximity Read

Challenges and progress in interpretation of non-coding genetic variants associated with human disease.Semantic proximity Read

Interpreting noncoding genetic variation in complex traits and human disease.Semantic proximity Read

Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.Semantic proximity Read

Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project.Semantic proximity Read

Functional categorization of gene regulatory variants that cause Mendelian conditions.Semantic proximity Read

The genetic signatures of noncoding RNAs.Semantic proximity Read

Scoring of pathogenic non-coding variants in Mendelian diseases through supervised learning on ancient, recent and ongoing purifying selection signals in humanSemantic proximity Read

Searching for functional genetic variants in non-coding DNA.Semantic proximity Read