Archiv: 1000 Genomes Project (consortium)


20.09.2023 - 03:49 [ European Bioinformatics Institute / European Molecular Biology Laboratory ]

A more diverse human reference genome

(10 May 2023)

The work was led by the international Human Pangenome Reference Consortium (HPRC), a group funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH) and consisting of 14 institutes, including EMBL’s European Bioinformatics Institute (EMBL-EBI). (…)

The majority of the genomes used to create the human pangenome reference were collected as part of the 1000 genomes project, the largest public catalogue of human variation and genotype data from a wide range of populations. (…)

In order to understand the differences in the genes present across the individual genomes represented in the human pangenome, researchers in EMBL-EBI’s Ensembl team needed to map the high-quality annotations on the reference human genome generated as part of the GENCODE project, across the pangenome.

20.09.2023 - 03:12 [ Wikipedia ]

1000 Genomes Project

Some genomic differences may not affect fitness. Neutral variation, previously thought to be “junk” DNA, is unaffected by natural selection resulting in higher genetic variation at such sites when compared to sites where variation does influence fitness.[14]

It is not fully clear how natural selection has shaped population differences; however, genetic candidate regions under selection have been identified recently. (…)

It was found that on average, each person carries around 250–300 loss-of-function variants in annotated genes and 50-100 variants previously implicated in inherited disorders. Based on the two trios, it is estimated that the rate of de novo germline mutation is approximately 10−8 per base per generation.

20.09.2023 - 02:51 [ National Library of Medicine / National Institutes of Health (NIH) ]

The 1000 Genomes Project: Welcome to a New World

(Dec 2015)

“Now this is not the end… But it is, perhaps, the end of the beginning” as Winston Churchill said. Large-scale sequencing projects will continue for more regional or ethnic groups, in order to extend the global coverage. Much effort will focus on a better understanding of the relationship between genetic variation and common disorders. The translation of this massive genetic information to human health will benefit from the development of complex databases gathering genetic, clinical, and biological data, such as multi-omics profiles, while maintaining protection of potentially sensitive personal information (3). Efforts are also underway to increase genetic awareness in the public and to educate health professionals