Searching journal content for articles similar to Sterne-Weiler et al. 21 (10): 1563.

Displaying results 1-10 of 315

For checked items

view abstracts
download to citation manager

Select this article
Resource: PWAS Hub for exploring gene-based associations of common complex diseases
- Guy Kelman,
- Roei Zucker,
- Nadav Brandes,
- and Michal Linial
Genome Res. October 2024 34: 1674-1686; Published in Advance October 15, 2024, doi:10.1101/gr.278916.123
...with browsing capabilities for genes and medical outcomes. We conduct separate analyses for females, males, and both sexes, allowing interactive navigation across sexes and by the specific model of inheritance.ResultsGene-based associations for common diseasesThe PWAS Hub is a portal presenting an in...
OPEN ACCESS ARTICLE
Select this article
Method: Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
- Tanner D. Jensen,
- Bohan Ni,
- Chloe M. Reuter,
- John E. Gorzynski,
- Sarah Fazal,
- Devon Bonner,
- Rachel A. Ungar,
- Pagé C. Goddard,
- Archana Raja,
- Euan A. Ashley,
- Jonathan A. Bernstein,
- Stephan Zuchner,
- Undiagnosed Diseases Network,
- Michael D. Greicius,
- Stephen B. Montgomery,
- Michael C. Schatz,
- Matthew T. Wheeler,
- and Alexis Battle
Genome Res. April 2025 35: 914-928; Published in Advance March 20, 2025, doi:10.1101/gr.279323.124
...set with previously reported functional SVs implicated in patient phenotypes. Specifically, we applied Watershed-SV, trained using GTEx SR-GS SV calls and multitissue transcriptomic outliers, to prioritize functional rare SVs from 26 patients with inherited muscular disease, among which two...
OPEN ACCESS ARTICLE
Select this article
Perspective: Applications of single-cell genomics and computational strategies to study common disease and population-level variation
- Benjamin J. Auerbach,
- Jian Hu,
- Muredach P. Reilly,
- and Mingyao Li
Genome Res. October 2021 31: 1728-1741; doi:10.1101/gr.275430.121
.... 2021; Xiong et al. 2021).In this article, we first review the current state of single-cell studies in common disease and then discuss factors that need to be considered when designing a large-scale population-based single-cell study. We then describe computational strategies for the analysis...
OPEN ACCESS ARTICLE
Select this article
Resource: Recent, full-length gene retrocopies are common in canids
- Kevin Batcher,
- Scarlett Varney,
- Daniel York,
- Matthew Blacksmith,
- Jeffrey M. Kidd,
- Robert Rebhun,
- Peter Dickinson,
- and Danika Bannasch
Genome Res. August 2022 32: 1602-1611; Published in Advance August 12, 2022, doi:10.1101/gr.276828.122
...for 10% of the phenotype-associated variants identified to date (Online Mendelian Inheritance in Animals [OMIA] Sydney School of Veterinary Science, March 29, 2022; https://omia.org/), whereas in humans, transposable elements are responsible for only 0.27% of all disease mutations (Callinan and Batzer...
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
...young ones (Domazet-Lošo and Tautz 2008). However, the underlying mechanism remains unclear. In recent years, medical studies have identified deleterious variants causing rare disorders, “orphan” diseases, and rare forms of common diseases (Richards et al. 2015). Rare diseases are often caused by rare...
OPEN ACCESS ARTICLE
Select this article
Research: Saturation mutagenesis reveals manifold determinants of exon definition
- Shengdong Ke,
- Vincent Anquetil,
- Jorge Rojas Zamalloa,
- Alisha Maity,
- Anthony Yang,
- Mauricio A. Arias,
- Sergey Kalachikov,
- James J. Russo,
- Jingyue Ju,
- and Lawrence A. Chasin
Genome Res. January 2018 28: 11-24; Published in Advance December 14, 2017, doi:10.1101/gr.219683.116
...of splicing. In this plot, mutations with increased splicing are readily seen, some reaching the maximum PSI of 1, a 16-fold increase over the 0.065 PSI of WT HMA (gray dotted line in Fig. 2A). Mutations that substantially increase splicing of this exon were common and were clustered in several regions; 33...
Select this article
Research: L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis
- Stephanie N. Schauer,
- Patricia E. Carreira,
- Ruchi Shukla,
- Daniel J. Gerhardt,
- Patricia Gerdes,
- Francisco J. Sanchez-Luque,
- Paola Nicoli,
- Michaela Kindlova,
- Serena Ghisletti,
- Alexandre Dos Santos,
- Delphine Rapoud,
- Didier Samuel,
- Jamila Faivre,
- Adam D. Ewing,
- Sandra R. Richardson,
- and Geoffrey J. Faulkner
Genome Res. May 2018 28: 639-653; Published in Advance April 11, 2018, doi:10.1101/gr.226993.117
.... This study reveals L1 mobilization as a common feature of hepatocarcinogenesis in mammals, demonstrating that the phenomenon is not restricted to human viral HCC etiologies and is encountered in murine liver tumors.Transposable element (TE) sequences make up at least half of the human and mouse s (Lander et...
OPEN ACCESS ARTICLE
Select this article
Resource: A platform for curated products from novel open reading frames prompts reinterpretation of disease variants
- Matthew D.C. Neville,
- Robin Kohze,
- Chaitanya Erady,
- Narendra Meena,
- Matthew Hayden,
- David N. Cooper,
- Matthew Mort,
- and Sudhakaran Prabakaran
Genome Res. February 2021 31: 327-336; Published in Advance January 19, 2021, doi:10.1101/gr.263202.120
...(Erady et al. 2021), are biologically regulated in mouse neurons (Prabakaran et al. 2014), and harbor deleterious mutations from cancer and other inherited diseases (Erady et al. 2021). Despite these examples, the vast majority of nORFs have no known function, and their exclusion from canonical...
Select this article
Research: Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease
- Claudio Casola,
- Ugne Zekonyte,
- Andrew D. Phillips,
- David N. Cooper,
- and Matthew W. Hahn
Genome Res. March 2012 22: 429-435; Published in Advance November 16, 2011, doi:10.1101/gr.127738.111
...recombination, and retrotransposon insertion are responsible for gross genomic rearrangements events that have been linked to human inherited disease (Cooper et al. 2011). For example,NHEJ is responsible for themost common type of Robertsonian translocation between chromosomes 11 and 22 (Kurahashi et al. 2010...
Select this article
Method: Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets
- Perry Evans,
- Chao Wu,
- Amanda Lindy,
- Dianalee A. McKnight,
- Matthew Lebo,
- Mahdi Sarmady,
- and Ahmad N. Abou Tayoun
Genome Res. July 2019 29: 1144-1151; Published in Advance June 24, 2019, doi:10.1101/gr.240994.118
...inheritance pattern, might have distinct characteristics impacting variant prediction relative to all other epilepsy genes (see below). For each disease variant set, we compared the performance of CCR, FATHMM, missense badness, missense depletion, MTR, and VEST using panel and ClinVar variants...

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to Sterne-Weiler et al. 21 (10): 1563.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: