Results 91 to 100 of about 3,190,493 (303)

K-mer analysis of long-read alignment pileups for structural variant genotyping

Nature Communications
Accurately genotyping structural variant (SV) alleles is crucial to genomics research. We present a novel method (kanpig) for genotyping SVs that leverages variant graphs and k-mer vectors to rapidly generate accurate SV genotypes.
Adam C. English, Fabio Cunial, Ginger A. Metcalf, Richard A. Gibbs, Fritz J. Sedlazeck   +4 more
doaj   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Tracking updates in clinical databases increases efficiency for variant reanalysis

Genetics in Medicine Open
Purpose: Variant interpretation, guided by American College of Medical Genetics and Genomics guidelines, can inform clinical decision-making. However, interpretations may change over time for a variety of reasons.
Lele Li, Xia Tian, Vaughan Woodzell, Richard A. Gibbs, Bo Yuan, Eric Venner   +5 more
doaj   +1 more source

Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus)

BMC Biology, 2017
Background The de novo assembly of repeat-rich mammalian genomes using only high-throughput short read sequencing data typically results in highly fragmented genome assemblies that limit downstream applications.
Peter A. Larsen, R. Alan Harris, Yue Liu, Shwetha C. Murali, C. Ryan Campbell, Adam D. Brown, Beth A. Sullivan, Jennifer Shelton, Susan J. Brown, Muthuswamy Raveendran, Olga Dudchenko, Ido Machol, Neva C. Durand, Muhammad S. Shamim, Erez Lieberman Aiden, Donna M. Muzny, Richard A. Gibbs, Anne D. Yoder, Jeffrey Rogers, Kim C. Worley   +19 more
doaj   +1 more source

Reliable and accurate diagnostics from highly multiplexed sequencing assays [PDF]

, 2020
Scalable, inexpensive, and secure testing for SARS-CoV-2 infection is crucial for control of the novel coronavirus pandemic. Recently developed highly multiplexed sequencing assays (HMSAs) that rely on high-throughput sequencing can, in principle, meet ...
Bloom, Joshua S., Booeshaghi, A. Sina, Cooper, Aaron R., Gehring, Jase, Kosuri, Sriram, Lubock, Nathan B., Luebbert, Laura, Pachter, Lior, Simpkins, Scott W.   +8 more
core  

Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions

FEBS Letters, EarlyView.
We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva, Puspa Kunwar, Md Ibnul Rifat Rahman, Joanna Koryo Kwao, Nathan Lehman, Zihan Zhang, Trenton Paul, Claire Cheng, Nicholas Truex, Hui‐Ting Lee, Jun Zhang   +10 more
wiley   +1 more source

The sequencing of agricultural market reforms in Malawi [PDF]

The paper analyzes the welfare impacts of alternative sequencing scenarios of agricultural market reforms in Malawi using a profit maximization approach.
Kherallah, Mylène, Kumaresan, Govindan
core   +1 more source

Sequence ‘minimization’: exploring the sequence landscape with simplified sequences

Current Opinion in Biotechnology, 1995
The challenges of protein engineering arise, in part, from the enormous number of possible sequences and the almost unimaginably small fraction of such sequences that can be studied experimentally or computationally. Fortunately, not all possibilities need to be considered because many different sequences can adopt the same structure.
openaire   +2 more sources