Nature

Genetics articles from across Nature Portfolio

Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring, including the molecular structure and function of genes, gene behaviour in the context of a cell or organism (e.g. dominance and epigenetics), gene distribution, and variation and change in populations.

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An expanded genomic database for identifying disease-related variants

An expanded version of a human-genome database called gnomAD, containing 76,156 whole-genome sequences, has enabled investigation of how variants in non-protein-coding regions of the genome affect health.
- Ryan S. Dhindsa
- Slavé Petrovski
News & Views06 Dec 2023 Nature
Epigenetic changes in specific embryonic cell types result in birth defects

Environmental factors can contribute to congenital disorders, including heart defects and craniofacial malformations. Single-cell multi-omic analyses in mouse embryos from diabetic mothers (with high intrauterine glucose levels) revealed epigenetic changes in specific sub-populations of cardiac and craniofacial progenitors. These changes affected retinoic acid signaling and axial patterning, contributing to the observed developmental anomalies.

News & Views06 Dec 2023 Nature Cardiovascular Research
Volume: 2, P: 1127-1128
Unveiling novel genetic insights into arterial calcification

Coronary artery calcification (CAC) is a strong predictor of coronary artery disease. A genome-wide association study of CAC in diverse populations, including 22,400 participants, identifies two previously unrecognized loci associated with CAC and provides insights into the underlying molecular mechanism of CAC.
- Claudia Goettsch
News & Views04 Dec 2023 Nature Cardiovascular Research
Volume: 2, P: 1102-1103

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Latest Research and Reviews

A French nationwide study compared various conditions and healthcare use of individuals < 65 years with a Down’s syndrome to those without
- Philippe Tuppin
- Pauline Barthelemy
- Antoine Rachas
ResearchOpen Access10 Dec 2023 Scientific Reports
Volume: 13, P: 21865
Gene expression and alternative splicing contribute to adaptive divergence of ecotypes
- Peter A. Innes
- April M. Goebl
- Nolan C. Kane
Research09 Dec 2023 Heredity
P: 1-13
Gamma-glutamyl transferase and calculus of kidney incidence: a Mendelian randomization study
- Peizhe Li
- Yuewen Pang
- Jing Shi
ResearchOpen Access09 Dec 2023 Scientific Reports
Volume: 13, P: 21821
Single cell multi-omics reveal intra-cell-line heterogeneity across human cancer cell lines

Intra-cell line heterogeneity remains to be characterized. Here, the use of single multi-omics on a large panel of human cell lines identifies copy number variation, epigenetic variation and extrachromosomal DNA distribution as the main contributors to intra-cell line heterogeneity.
- Qionghua Zhu
- Xin Zhao
- Liang Wu
ResearchOpen Access09 Dec 2023 Nature Communications
Volume: 14, P: 8170
Loss of cohesin regulator PDS5A reveals repressive role of Polycomb loops

Through a genetic screen, the authors find that the cohesin regulator PDS5A is required for Polycomb target gene silencing. Derepression upon cohesin dysregulation is linked to loss of Polycomb loops without change in repressive chromatin domains.
- Daniel Bsteh
- Hagar F. Moussa
- Oliver Bell
ResearchOpen Access09 Dec 2023 Nature Communications
Volume: 14, P: 8160
vcfdist: accurately benchmarking phased small variant calls in human genomes

Accurately benchmarking small variant calling accuracy is critical for the continued improvement of human genome sequencing. Here, the authors show that current approaches are biased towards certain variant representations and develop a new approach to ensure consistent and accurate benchmarking, regardless of the original variant representations.
- Tim Dunn
- Satish Narayanasamy
ResearchOpen Access09 Dec 2023 Nature Communications
Volume: 14, P: 8149

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News and Comment

Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement
- Maeve Bradley
- Robert H. Field
- Hugh Kearney
Comments & Opinion08 Dec 2023 European Journal of Human Genetics
P: 1-3
Epigenetic memory in 3D
- Chiara Anania
Research Highlights07 Dec 2023 Nature Genetics
Volume: 55, P: 2019
EP400/TIP60 compensates for SWI/SNF loss
- Tiago Faial
Research Highlights07 Dec 2023 Nature Genetics
Volume: 55, P: 2018
A single-nucleus pan-cancer epigenetic and transcriptomic landscape
- Michael Fletcher
Research Highlights07 Dec 2023 Nature Genetics
Volume: 55, P: 2019
The myeloma microenvironment and response to immunotherapy
- Safia Danovi
Research Highlights07 Dec 2023 Nature Genetics
Volume: 55, P: 2018
Epigenetic profiling of cancers using liquid biopsies
- Safia Danovi
Research Highlights07 Dec 2023 Nature Genetics
Volume: 55, P: 2019

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