Nature Genetics

Elmonem, Mohamed A.; Soliman, Neveen A.; Moustafa, Ahmed; Gad, Yehia Z.; Hassan, Wael A.; Taha, Tarek; El-Feky, Gina; Sakr, Mahmoud; Amer, Khaled

doi: 10.1038/s41588-024-01739-1pmid: 38684896

The recently launched Egyptian Genome Project aims to sequence genomic variants of 100,000 apparently healthy Egyptian adults, with around 8,000 individuals suspected to have a genetic disease, as well as 200 ancient Egyptian mummies. The project will provide the first comprehensive genomic dataset from Egypt and North Africa.

Fletcher, Michael

doi: 10.1038/s41588-024-01815-6pmid: 38871863

Faial, Tiago

doi: 10.1038/s41588-024-01817-4pmid: 38871865

Danovi, Safia

doi: 10.1038/s41588-024-01814-7pmid: 38871862

Gross, Petra

doi: 10.1038/s41588-024-01816-5pmid: 38871864

Charlet-Berguerand, Nicolas

doi: 10.1038/s41588-024-01770-2pmid: 38811843

Trinucleotide repeat expansions, notably CAG repeats translated into toxic polyglutamine-containing proteins, are the leading cause of spinocerebellar ataxia (SCA). New work points to a GGC repeat expansion that encodes a polyglycine-containing protein as a cause of SCA4, highlighting polyglycine disorders as an emerging human genetic disease class.

Fernie, Alisdair R.; Bulut, Mustafa

doi: 10.1038/s41588-024-01768-wpmid: 38778241

For a variety of reasons, genetic understanding of the steps leading to domestication of the nutrient-rich edible arrested inflorescence of cauliflower — its curd — has proven relatively intractable. A genomic study now unravels the details.

doi: 10.1038/s41588-024-01751-5pmid: 38773244

Many plant products eaten daily in human diets — such as potato or banana — are polyploid and are notoriously difficult to breed. In this study, the fusion of clonal gametes from distinct diploid tomato parents is used as a blueprint for the design of polyploid genomes in crops.

doi: 10.1038/s41588-024-01757-zpmid: 38839886

Our study explored cell-specific functional consequences and clonal expansions of mosaic structural variants in distinct hematopoietic stem and progenitor cells by utilizing advanced single-cell sequencing techniques. Our single-cell multi-omics approach paves the way for future studies to focus on the roles of somatic structural variants in aging and disease.

doi: 10.1038/s41588-024-01756-0pmid: 38806715

An analysis of somatic mutations in blood exomes from 200,618 individuals revealed previously unrecognized genes driving clonal hematopoiesis. Mutations in these genes showed age-dependent clonal expansion and their presence correlated with heightened risks of infection, death and hematological malignancy.