Results 181 to 190 of about 338,804 (265)

A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies. [PDF]

Biomedicines
Nardone GG, Andrioletti V, Santin A, Morgan A, Spedicati B, Concas MP, Gasparini P, Girotto G, Limongelli I.   +8 more
europepmc   +1 more source

Accurate and noninvasive prostate cancer detection using plasma‐derived extracellular vesicle RNA

FEBS Open Bio, EarlyView.
Plasma extracellular vesicles were captured with WGA‐conjugated magnetic beads and profiled for RNA biomarkers. A three‐RNA panel (NM_024955, NR_047469, and NR_002564) distinguished prostate cancer from healthy controls and benign prostatic hyperplasia, supporting a simple, noninvasive approach to improve prostate cancer detection.
Hanping Wei, Haoran Wu, Wei Feng
wiley   +1 more source

P636: Implementing structural variant analysis in Codicem: A comprehensive clinical variant analysis platform*

Genetics in Medicine Open
James Lawlor, Fariba ShaterFerdosian, Jacob Kelly, Wayne Schroer, Susan Hiatt, Ghunwa Nakouzi, Scott Newberry, Gregory Cooper   +7 more
doaj   +1 more source

Accurate, Scalable Structural Variant Genotyping in Complex Genomes at Population Scales. [PDF]

Mol Biol Evol
Hu M, Wan P, Chen C, Tang S, Chen J, Wang L, Chakraborty M, Zhou Y, Chen J, Gaut BS, Emerson JJ, Liao Y.   +11 more
europepmc   +1 more source

Identification of (20R)‐protopanaxadiol from Panax ginseng as a novel anti‐SARS‐CoV‐2 compound

FEBS Open Bio, EarlyView.
We established a noninfectious BAC‐based SARS‐CoV‐2 replicon that enables antiviral screening under BSL‐2 conditions. Using this platform, we screened 373 food‐derived compounds and identified (20R)‐protopanaxadiol from Panax ginseng as a novel inhibitor of SARS‐CoV‐2 RNA replication, highlighting the value of safe replicon systems for antiviral ...
Midori Takeda, Natsue Maezono, Rina Uchikoshi, Nobuyuki Kato, Masanori Ikeda   +4 more
wiley   +1 more source

Blackbird: structural variant detection using synthetic and low-coverage long-reads. [PDF]

Bioinform Adv
Meleshko D, Yang R, Maharjan S, Danko DC, Korobeynikov A, Hajirasouliha I.   +5 more
europepmc   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Molecular residual disease assessment in colorectal and bladder cancer by somatic structural variant analysis of cell-free DNA whole-genome sequencing data. [PDF]

J Transl Med
Sørensen EE, Frydendahl A, Rasmussen MH, Nordentoft I, Knudsen M, Henriksen TV, Lindskrog SV, Dyrskjøt L, Andersen CL, Bramsen JB.   +9 more
europepmc   +1 more source

Identifying and characterising a plant GH1 β‐glucosidase that exhibits hydrolytic activity on N‐linked glucopyranoside

FEBS Open Bio, EarlyView.
We report the first β‐glucosidase with demonstrated hydrolytic activity on an N‐linked glycopyranoside. The enzyme, native to maize, was biochemically characterised for this novel reaction, and structural modelling of the enzyme–substrate complex revealed several clues to the underlying reduced catalytic rate relative to its native O‐glycopyranoside ...
Hani Gharabli, Carlotta Chiesa, Maher Abou Hachem, Ditte Hededam Welner   +3 more
wiley   +1 more source

MoG+3.0: expanded structural variant visualization and integration of genomic data from five newly analyzed mouse strains. [PDF]

Mamm Genome
Takada T, Miyazawa H, Yamagata M, Tamura M, Yoshiki A, Toyoda A, Noguchi H, Masuya H.   +7 more
europepmc   +1 more source