Improving gene isoform quantification with miniQuant. [PDF]
Abstract RNA sequencing has been widely applied for gene isoform quantification, but limitations exist in quantifying isoforms of complex genes accurately, especially for short reads. Here we identify genes that are difficult to quantify accurately with short reads and illustrate the information benefit of using long reads to quantify these ...
Li H +17 more
europepmc +3 more sources
A bioinformatic survey of RNA isoform diversity and expression across 9 GTEx tissues using long-read sequencing data [PDF]
Background Even though alternative RNA splicing was discovered nearly 50 years ago (1977), we still understand very little about most isoforms arising from a single gene, including in which tissues they are expressed and if their functions differ.
Madeline L. Page +7 more
doaj +2 more sources
Dissecting the Biological Functions of Various Isoforms of Ferredoxin Reductase for Cell Survival and DNA Damage Response [PDF]
The ferredoxin reductase (FDXR) gene is expressed as seven isoforms: 1–6 by alternative splicing and 7 by an alternative promoter according to the Entrez Gene Database.
Ken-ichi Nakajima +4 more
doaj +2 more sources
Gene isoform specificity through enhancer-associated antisense transcription. [PDF]
Enhancers and antisense RNAs play key roles in transcriptional regulation through differing mechanisms. Recent studies have demonstrated that enhancers are often associated with non-coding RNAs (ncRNAs), yet the functional role of these enhancer:ncRNA ...
Courtney S Onodera +6 more
doaj +4 more sources
Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation [PDF]
We present a whole-blood isoform ratio QTL (irQTL) resource by analyzing genome-wide isoform-to-gene expression ratios using sequencing data. In Framingham Heart Study (FHS, n = 2622) discovery, we identify over 1.1 million cis-irQTLs (minor allele ...
Chunyu Liu +24 more
doaj +2 more sources
Transcript isoforms regulated by alternative splicing can substantially impact carcinogenesis, leading to a need to obtain clues for both gene differential expression and malfunctions of isoform distributions in cancer studies.
Tzu-Hsien Yang +8 more
doaj +1 more source
Isoform function prediction by Gene Ontology embedding
AbstractMotivationHigh-resolution annotation of gene functions is a central task in functional genomics. Multiple proteoforms translated from alternatively spliced isoforms from a single gene are actual function performers and greatly increase the functional diversity.
Sichao Qiu +4 more
openaire +2 more sources
Characterization of Rubisco Activase Genes in Maize: An α-Isoform Gene Functions alongside a β-Isoform Gene [PDF]
Rubisco activase (RCA) catalyzes the activation of Rubisco in vivo and plays a crucial role in regulating plant growth. In maize (Zea mays), only β-form RCA genes have been cloned and characterized. In this study, a genome-wide survey revealed the presence of an α-form RCA gene and a β-form RCA gene in the maize genome, herein referred to as ZmRCAα and
Zhitong Yin +9 more
openaire +2 more sources
The actin gene family: Function follows isoform [PDF]
AbstractAlthough actin is often thought of as a single protein, in mammals it actually consists of six different isoforms encoded by separate genes. Each isoform is remarkably similar to every other isoform, with only slight variations in amino acid sequence.
Perrin, Benjamin J, Ervasti, James M
openaire +2 more sources
TAGET: a toolkit for analyzing full-length transcripts from long-read sequencing
Single-molecule Real-time Isoform Sequencing (Iso-seq) of transcriptomes by PacBio can generate very long and accurate reads, thus providing an ideal platform for full-length transcriptome analysis.
Yuchao Xia +10 more
doaj +1 more source

