Editing Functional genomics (section)

==Consortium projects==

=== The ENCODE project ===
{{Main|ENCODE}}
The [[ENCODE]] (Encyclopedia of DNA elements) project is an in-depth analysis of the human genome whose goal is to identify all the functional elements of genomic DNA, in both coding and non-coding regions. Important results include evidence from genomic tiling arrays that most nucleotides are transcribed as coding transcripts, non-coding RNAs, or random transcripts, the discovery of additional transcriptional regulatory sites, further elucidation of chromatin-modifying mechanisms.

=== The Genotype-Tissue Expression (GTEx) project ===
[[File:Nature24277-f1.jpg|thumb|Samples used and eQTLs discovered in GTEx v6]]
The GTEx project is a human genetics project aimed at understanding the role of genetic variation in shaping variation in the transcriptome across tissues. The project has collected a variety of tissue samples (> 50 different tissues) from more than 700 post-mortem donors. This has resulted in the collection of >11,000 samples. GTEx has helped understand the tissue-sharing and tissue-specificity of [[eQTL]]s.<ref>{{cite journal | vauthors = Battle A, Brown CD, Engelhardt BE, Montgomery SB | collaboration = GTEx Consortium | title = Genetic effects on gene expression across human tissues | journal = Nature | volume = 550 | issue = 7675 | pages = 204–213 | date = October 2017 | pmid = 29022597 | pmc = 5776756 | doi = 10.1038/nature24277 | bibcode = 2017Natur.550..204A }}</ref> The genomic resource was developed to "enrich our understanding of how differences in our DNA sequence contribute to health and disease."<ref>{{Cite web|url=https://commonfund.nih.gov/highlights2017|title=GTEx Creates a Reference Data Set to Study Genetic Changes and Gene Expression|access-date=2022-01-13| publisher = U.S. National Institutes of Health | work = Office of Strategic Coordination - The Common Fund|date=8 February 2018 }}</ref>

=== The Atlas of Variant Effects Alliance ===
[https://www.varianteffect.org/ The Atlas of Variant Effects Alliance] (AVE),<ref>{{cite web |title=Atlas of Variant Effects Alliance |url=https://ror.org/00p2ftz29 |website=Research Organization Registry}}</ref> founded in 2020, is an international consortium aiming to catalog the impact of all possible genetic variants for disease-related functional genomics by creating variant effect maps that reveal the function of every possible single nucleotide change in a gene or regulatory element. AVE is funded in part through the Brotman Baty Institute at the University of Washington and the National Human Genome Research Institute, via funding from the Center of Excellence in Genome Science grant (NHGRI RM1HG010461).<ref name=":0">{{Cite web |title=Scientists Launch 'Herculean' Project Creating Atlas of Human Genome Variants {{!}} Brotman Baty Institute |url=http://brotmanbaty.org/news/scientists-launch-herculean-project-creating-atlas-of-human-genome-variants |access-date=2024-02-05 |website=brotmanbaty.org |language=en}}</ref>