Searching journal content for articles similar to Huang et al. 19 (4): 674.

Displaying results 1-10 of 5738

For checked items

view abstracts
download to citation manager

Select this article
Resource: Analyzing the large and complex SFARI autism cohort data using the Genotypes and Phenotypes in Families (GPF) platform
- Liubomir Chorbadjiev,
- Murat Cokol,
- Zohar Weinstein,
- Kevin Shi,
- Christopher Fleisch,
- Nikolay Dimitrov,
- Svetlin Mladenov,
- Ivo Todorov,
- Iordan Ivanov,
- Simon Xu,
- Steven Ford,
- Yoon-ha Lee,
- Boris Yamrom,
- Steven Marks,
- Adriana Munoz,
- Alex Lash,
- Natalia Volfovsky,
- and Ivan Iossifov
Genome Res. October 2025 35: 2352-2362; Published in Advance September 16, 2025, doi:10.1101/gr.280356.124
...genotypes and phenotypes derived from collections of families. GPF allows interactive exploration of genetic variants, enrichment analysis for de novo mutations, phenotype/genotype association tools, and secure data sharing. GPF is used to disseminate two family collection data sets, SSC and SPARK...
OPEN ACCESS ARTICLE
Select this article
Research: Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection
- Jian-Hai Chen,
- Patrick Landback,
- Deanna Arsala,
- Alexander Guzzetta,
- Shengqian Xia,
- Jared Atlas,
- Dylan Sosa,
- Yong E. Zhang,
- Jingqiu Cheng,
- Bairong Shen,
- and Manyuan Long
Genome Res. March 2025 35: 379-392; Published in Advance February 14, 2025, doi:10.1101/gr.279498.124
...the ongoing evolution of human phenotypes, with beneficial mutations being fixed by positive selection, and detrimental ones being eliminated through purifying selection. In medical terminology, this spectrum is categorized as “case and control” or “disease and health,” representing two ends of the phenotypic...
OPEN ACCESS ARTICLE
Select this article
Resource: MPRAbase a Massively Parallel Reporter Assay database
- Jingjing Zhao,
- Fotis A Baltoumas,
- Maxwell A Konnaris,
- Ioannis Mouratidis,
- Zhe Liu,
- Jasmine Sims,
- Vikram Agarwal,
- Georgios A Pavlopoulos,
- Ilias Georgakopoulos-Soares,
- and Nadav Ahituv
Genome Res. April 22, 2025 gr.280387.124; Published in Advance April 22, 2025, doi:10.1101/gr.280387.124
...MPRAbase A Massively Parallel Reporter Assay database Jingjing Zhao1,2,*, Fotis A. Baltoumas3,*, Maxwell A. Konnaris4,5, Ioannis Mouratidis4, Zhe Liu1,2,6, Jasmine Sims1,2, Vikram Agarwal7, Georgios A. Pavlopoulos3, Ilias Georgakopoulos-Soares4,♱, Nadav Ahituv1,2,♱ 1Department of Bioengineering...
- Abstract
- Full Text (PDF)
OPEN ACCESS ARTICLEACCEPTED MANUSCRIPT
Select this article
Research: Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia
- Gage S. Black,
- Xiaomeng Huang,
- Yi Qiao,
- Philip Moos,
- Deepa Sampath,
- Deborah M. Stephens,
- Jennifer A. Woyach,
- and Gabor T. Marth
Genome Res. April 2025 35: 686-697; Published in Advance February 18, 2025, doi:10.1101/gr.279049.124
...-occurrence of BTKC481S and additional CLL driver mutations, as well as BTK-mutant subclonal phenotypes.ResultsLong-read sequencing with MAS-seq expands transcript and variant coverageWe generated long-read scRNA-seq data for the pretreatment and relapse samples from six CLL patients who developed BTKC481S mutations...
Select this article
Research: The rate and spectrum of new mutations in mice inferred by long-read sequencing
- Eugenio López-Cortegano,
- Jobran Chebib,
- Anika Jonas,
- Anastasia Vock,
- Sven Künzel,
- Peter D. Keightley,
- and Diethard Tautz
Genome Res. January 2025 35: 43-54; Published in Advance December 2, 2024, doi:10.1101/gr.279982.124
...the different types of changes in the DNA sequence arise and their underlying mechanisms. New mutations are fundamental for many questions in evolutionary biology, and efforts to estimate their rates originated early in the history of genetics by phenotypic analysis of mutation accumulation (MA) lines...
OPEN ACCESS ARTICLE
Select this article
Research: Chimeric mitochondrial RNA transcripts predict mitochondrial genome deletion mutations in mitochondrial genetic diseases and aging
- Amy R. Vandiver,
- Allen Herbst,
- Paul Stothard,
- and Jonathan Wanagat
Genome Res. January 2025 35: 55-65; Published in Advance November 27, 2024, doi:10.1101/gr.279072.124
...in the Twinkle subjects were more evenly distributed across the mitochondrial . The distribution of fusion event locations was distinct from the distribution of mtDNA deletion mutations breakpoints reported in long-read sequencing of normal aging muscle and in available online mtDNA mutation databases (Fig. 2C...
Select this article
Research: The chromatin landscape of the histone-possessing Bacteriovorax bacteria
- Georgi K. Marinov,
- Benjamin Doughty,
- Anshul Kundaje,
- and William J. Greenleaf
Genome Res. January 2025 35: 109-123; Published in Advance November 21, 2024, doi:10.1101/gr.279418.124
..., Stanford University, Stanford, California 94305, USA; 4Department of Applied Physics, Stanford University, Stanford, California 94305, USA; 5Arc Institute, Palo Alto, California 94304, USA Corresponding author: marinovg@stanford.eduAbstractHistone proteins have traditionally been thought to be restricted...
Select this article
Research: Transcriptional modulation unique to vulnerable motor neurons predicts ALS across species and SOD1 mutations
- Irene Mei,
- Susanne Nichterwitz,
- Melanie Leboeuf,
- Jik Nijssen,
- Isadora Lenoel,
- Dirk Repsilber,
- Christian S. Lobsiger,
- and Eva Hedlund
Genome Res. September 2025 35: 1975-1991; Published in Advance July 17, 2025, doi:10.1101/gr.279501.124
...stem cell–derived SOD1E100G MNs and shows that dysregulation of VGF, INA, and PENK is a strong disease predictor across species and SOD1 mutations. Our study reveals MN population-specific gene expression and temporal disease-induced regulation that together provide a basis to explain ALS selective...
OPEN ACCESS ARTICLE
Select this article
Research: Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations
- Alicja Pacholewska,
- Matthias Lienhard,
- Mirko Brüggemann,
- Heike Hänel,
- Lorina Bilalli,
- Anja Königs,
- Felix Heß,
- Kerstin Becker,
- Karl Köhrer,
- Jesko Kaiser,
- Holger Gohlke,
- Norbert Gattermann,
- Michael Hallek,
- Carmen D. Herling,
- Julian König,
- Christina Grimm,
- Ralf Herwig,
- Kathi Zarnack,
- and Michal R. Schweiger
Genome Res. November 2024 34: 1832-1848; Published in Advance September 13, 2024, doi:10.1101/gr.279327.124
...are typically subclonal and have been linked to disease progression and shorter survival (Wan and Wu 2013; Landau et al. 2015). On the other hand, SF3B1 mutations in MDS patients have been associated with specific disease phenotypes that show erythroid dysplasia with ring sideroblasts and ineffective...
OPEN ACCESS ARTICLE
Select this article
Research: Global characterization of somatic mutations and DNA methylation changes during vegetative propagation in strawberries
- Shaoqiang Hu,
- Xiangguo Zeng,
- Yuguo Liu,
- Yongping Li,
- Minghao Qu,
- Wen-Biao Jiao,
- Yongchao Han,
- and Chunying Kang
Genome Res. October 2024 34: 1582-1594; Published in Advance October 15, 2024, doi:10.1101/gr.279378.124
...genetic diversity for crop breeding (Wang et al. 2021; Liu et al. 2022b), but can also cause unfavorable phenotypic variation. It is, therefore, important to systematically analyze the characteristics of somatic mutations in plants.Somaclonal variation can often cause phenotypic variation, as demonstrated...

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to Huang et al. 19 (4): 674.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: