Common Principles Underlie Mitochondrial DNA Heteroplasmy Dynamics in the Germline and Soma [0.03%]
线粒体DNA异质性在生殖细胞和体细胞中的共同原理
Cameron Ryall,Patrick F Chinnery,Jelle van den Ameele
Cameron Ryall
Heteroplasmy is the mixture of mutant and wild-type mitochondrial DNA (mtDNA) within each of our cells. Heteroplasmy levels in cells, tissues, and organisms change over time, thus contributing to mitochondrial disease, aging, and evolution....
Maike Bensberg,Alia W Johnson,Hannah C Kubinski et al.
Maike Bensberg et al.
Recent research has significantly advanced our understanding of how variation in the genome shapes human biology, yet the sex chromosomes remain among its least explored regions. Technical and conceptual challenges have historically limited...
Beyond TADs and Compartments: Mesoscale Chromatin Folding and Its Dynamics in Transcriptional Regulation [0.03%]
超越TADs和隔室：染色质介观折叠及其在转录调控中的动态变化
Wu Zuo,Viviana I Risca
Wu Zuo
Below the scale of long-range compartments and topologically associating domains (TADs) lie a diverse set of local chromatin organization features. Recent maps and single-molecule assays reveal modular sub-TAD units, nucleosome clutches, mi...
Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease [0.03%]
实验和计算方法识别罕见疾病中的非编码致病变异
Laura E Covill,Lindsay Romo,Anne O&#x;Donnell-Luria
Laura E Covill
Noncoding variants occur within noncoding genes as well as within the regulatory nontranslated regions of protein-coding genes. It is important to be aware that these variants have been increasingly implicated in developmental disease throu...
How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models [0.03%]
罕见疾病研究如何带来机制性认识和治疗手段的发展：非哺乳动物模型的启示
Paige Hall,Michael Wangler,Jonathan Andrews
Paige Hall
Though individually rare, rare diseases collectively affect nearly 1 out of 30 individuals, highlighting the continued need for and importance of research on these disorders. We argue that the recent work in identifying and diagnosing previ...
Matthew T Maurano
Matthew T Maurano
The genomics era has yielded high-quality genome assemblies, comprehensive atlases of biochemical signatures of gene regulation, and genetic associations for thousands of common human diseases and traits. These dramatic advances in observat...
Community Engagement in Genomic Research: Where We Have Been and Where We Should Go [0.03%]
基因组研究中的社区参与：我们做了什么，我们应该做什么
Mildred K Cho
Mildred K Cho
Community engagement in science has a long history but is particularly important for genomics because of the legacy of eugenics and the importance of diversity and representation in population genetics. In this article, I describe the role ...
Christa Caggiano,Ruhollah Shemirani,Eimear E Kenny
Christa Caggiano
Founder populations have played a pivotal role in human genetics, enabling the discovery of causal variants for disease and providing insight into population history and dynamics. The rapid expansion of global genomic databases has revealed...
Unraveling Non-B DNA Structures in the Era of Telomere-to-Telomere Genomes [0.03%]
全基因组时代Telomere至Telomere基因组中非经典DNA结构的研究进展
Kateryna D Makova,Saswat Mohanty,Linnéa Smeds et al.
Kateryna D Makova et al.
Telomere-to-telomere (T2T) genome assemblies now provide a complete representation of genomic sequences, enabling unprecedented exploration of non-B DNA structures-secondary conformations distinct from canonical B-DNA. These fully resolved ...
Modeling Dynamics, Cell Type Specificity, and Perturbations in Gene Regulatory Networks [0.03%]
基因调控网络的建模及其动态、细胞类型特异性和扰动性
Junha Shin,Spencer Halberg-Spencer,Yuda Liu et al.
Junha Shin et al.
Gene regulatory networks (GRNs) define the regulatory relationships among molecules such as transcription factors, chromatin remodelers, and target genes. GRNs play a critical role in diverse biological processes, including development, dis...