The authors present a framework to isolate condensed marker gene signatures by requiring both conserved cell-type specificity and conserved expression across multi-species scRNA-seq datasets. Bone mar...

BACH2 restrains activation of the fetal-haemoglobin-encoding γ-globin genes, while loss of BACH2 enhances NRF2 chromatin occupancy and promotes the formation of activation foci at the γ-globin genes.

Despite the importance of population descriptors in human genomics research, many scientists struggle to translate evolving ethical guidelines into their computational workflows. To characterize this ...

CRISPR knockout (CRISPRko) and CRISPR interference (CRISPRi) are two workhorse technologies for loss-of-function studies, yet direct comparisons between the two are scant relative to their widespread ...

Five scientists recognized for contributions to cures for sickle cell disease and beta-thalassemia

Key Points. Deep proteomics defines a complete, contamination-free RBC proteome (3,775 proteins) and O2-dependent interactome by Xlinking proteomicsThe Ban

Durcabtagene autoleucel, a rapidly manufactured BCMA-directed CAR T cell therapy, was safe and efficacious in relapsed/refractory multiple myeloma.

People are born with variable numbers of de novo germline mutations (DNMs), depending primarily on the ages of their parents. To explore additional causes, we developed an approach to call DNMs from nucleotide differences between siblings in genomic regions inherited identical by descent from both parents. Applying it to whole genome sequences from 28,985 sibling pairs of diverse genetic ancestries present in the UK Biobank and All of Us datasets, as well as 2,330 trios, we identified >800K autosomal DNMs and characterized mutation phenotypes in 27,645 sets of parents. We found subtle shifts in the mutation spectrum but no differences in total DNM rates among genetic ancestry groups, or between smokers and non-smokers. Testing for associations between parental mutation phenotypes and their burden of loss-of-function and deleterious missense variants in a set of 180 DNA repair and maintenance genes, we discovered that disruptions in REV1 and LIG1 increase germline mutation rates, and thus that rare mutator alleles segregate in population cohorts. ### Competing Interest Statement The authors have declared no competing interest. NIH, R35 GM083098

Greg was already a world-renowned scientist when appointed Director, and for the community, he was a visionary leader, a cherished mentor, and a singular force of nature whose influence shaped the research landscape.

Here's why you should, and how to start

His work combined scientific vision, experimental rigor and a constant focus on the potential impact of research for patients affected by severe inherited diseases.

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New landmark studies using AI to determine thymus health and its link to major outcomes

Nature Reviews Genetics - Haematopoiesis is a classic process for understanding the genetic basis of human health and disease. In this Review, Poeschla and Sankaran discuss this history and more...

Ignoring a very informative lab test

Here, Deol et al. use genetic screens in gene-edited reporter cell lines to identify regulators of ferroptosis suppressor protein 1 (FSP1) expression and stability. They show that vitamin B2 metabolis...

After performing a focused CRISPR–Cas9 screen, Skafar et al. identify riboflavin (vitamin B2) as a regulator of FSP1 stability that modulates phospholipid peroxidation and ferroptosis sensitivity in c...

Antibodies harvested from the blood of paediatricians are up to 25 times better at protecting against the common respiratory infection RSV than existing antibody therapies, and are now being developed as preventative treatments