Výsledky vyhľadávania - "variant calling"

Using artificial intelligence (AI) to model clinical variant reporting for next generation sequencing (NGS) oncology assays

Autori: Kenneth D. Doig Rashindrie Perera Yamuna Kankanige a ďalší

Zdroj: BioData Mining, Vol 18, Iss 1, Pp 1-16 (2025)

Predmety: Targeted sequencing, Clinical diagnostics, Variant calling, Somatic mutations, Cancer genomics, Precision oncology, Computer applications to medicine. Medical informatics, R858-859.7, Analysis, QA299.6-433

Popis súboru: electronic resource

Relation: https://doaj.org/toc/1756-0381

Prístupová URL adresa: https://doaj.org/article/15582eed94e944e78ebdbdd809014b16

vvv2_display: variant calling pipeline summarized in two outputs, png image of variants (proportion, annotation and coverage depth), tsv file of significant variants information

Autori: Flageul, Alexandre Hirchaud, Edouard Courtillon, Céline a ďalší

Predmety: bioconda, vvv2_display, variant calling, Molecular Sequence Annotation, virus, bioinformatics

SV-JIM, detailed pairwise structural variant calling using long-reads and genome assemblies

Autori: Todd, Clarence Jin, Lingling McQuillan, Ian

Zdroj: Methods. 234:305-313

Predmety: Genome, Human, Comparative genomics, Arabidopsis, High-Throughput Nucleotide Sequencing, Genomics, Sequence Analysis, DNA, Genomic Structural Variation, Humans, Structural variant calling, Genetic variation, Software, Genome, Plant, Algorithms

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39826659

RnaXtract, a tool for extracting gene expression, variants, and cell-type composition from bulk RNA sequencing

Autori: Sophiane G. Bouirdene Simon Gotty Mickaël Leclercq a ďalší

Zdroj: Scientific Reports, Vol 15, Iss 1, Pp 1-9 (2025)

Predmety: Bulk RNA-seq, Transcriptomics, Snakemake pipeline, Gene expression, Variant calling, Cell deconvolution, Medicine, Science

Popis súboru: electronic resource

Relation: https://doaj.org/toc/2045-2322

Prístupová URL adresa: https://doaj.org/article/25c4a6fce7194cd8821f785fd4524a6f

SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data

Autori: Rudel Christian Nkouamedjo Fankep Arda Söylev Anna-Lena Kobiela a ďalší

Zdroj: BMC Bioinformatics, Vol 26, Iss 1, Pp 1-15 (2025)

Predmety: Structural variants, Variant calling, Whole-genome sequencing, Meta-caller, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

Popis súboru: electronic resource

Relation: https://doaj.org/toc/1471-2105

Prístupová URL adresa: https://doaj.org/article/9f4f79064e6a457bad27e89028d1e6d4

Accurate human genome analysis with element avidity sequencing

Autori: Andrew Carroll Alexey Kolesnikov Daniel E. Cook a ďalší

Zdroj: BMC Bioinformatics, Vol 26, Iss 1, Pp 1-12 (2025)

Predmety: Genomics, Sequencing, Bioinformatics, WGS, Variant calling, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

Popis súboru: electronic resource

Relation: https://doaj.org/toc/1471-2105

Prístupová URL adresa: https://doaj.org/article/87ef3a54d4034b79b7acca0640d7f450

Precise detection of differential RNA editing sites across varied biological conditions using the CADRES pipeline

Autori: Jun Sun Chi Zhang Xiuling Li

Zdroj: Scientific Reports, Vol 15, Iss 1, Pp 1-15 (2025)

Predmety: RNA editing, Next-generation sequencing, Differential Variants on RNA (DVRs), Bioinformatics, Variant calling, APOBEC deaminase, Medicine, Science

Popis súboru: electronic resource

Relation: https://doaj.org/toc/2045-2322

Prístupová URL adresa: https://doaj.org/article/d3962dd9793940f99fff6238bba0a92a

Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets

Autori: Matthew Wong Bryan Liew Melissa Hum a ďalší

Zdroj: Scientific Reports, Vol 15, Iss 1, Pp 1-12 (2025)

Predmety: Benchmarking, Variant calling, Whole-exome sequencing, No-programming software, GIAB., Medicine, Science

Popis súboru: electronic resource

Relation: https://doaj.org/toc/2045-2322

Prístupová URL adresa: https://doaj.org/article/b2f08567dec64da3bfa6e6a0ee0616de

Variant calling in polyploids for population and quantitative genetics

Autori: Phillips, Alyssa R

Zdroj: Applications in Plant Sciences. 12(4)

Predmety: Agricultural, Veterinary and Food Sciences, Crop and Pasture Production, Genetics, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Generic health relevance, mixed ploidy, polyploidy, population genetics, quantitative genetics, variant calling, whole genome sequence, Crop and pasture production

Popis súboru: application/pdf

Prístupová URL adresa: https://escholarship.org/uc/item/03z563k0
https://escholarship.org/content/qt03z563k0/qt03z563k0.pdf

Artificial intelligence in variant calling: a review

Autori: Omar Abdelwahab Davoud Torkamaneh

Zdroj: Front Bioinform
Frontiers in Bioinformatics, Vol 5 (2025)

Predmety: variant calling, machine learning (ML), Bioinformatics, Computer applications to medicine. Medical informatics, genomics, R858-859.7, deep learning, artificial intelligence

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/40337525
https://doaj.org/article/2112bef1c7cb42ea9d6f2c2c29a3e266

Comparing variant calling tools for genomic analysis of patients predisposed to Kidney Disease

Autori: Neuwirthová, Jana Indráková, Jana Provazník, Valentýna a ďalší

Predmety: next generation sequencing, Variant calling tools, kidney disease, genetic variants

Popis súboru: text; application/pdf

Prístupová URL adresa: https://hdl.handle.net/11012/255287

ISO calling

Autori: Florian Jaton

Zdroj: Revue d'anthropologie des connaissances, Vol 19, Iss 3 (2025)

Predmety: ethnography, standardization, computational genomics, variant calling, precision medicine, personalized medicine, Sociology (General), HM401-1281

Popis súboru: electronic resource

Relation: https://journals.openedition.org/rac/38578; https://doaj.org/toc/1760-5393

Prístupová URL adresa: https://doaj.org/article/ad9f0cacf19840bc939f7c136326b522

L’appel de l’ISO

Autori: Florian Jaton

Zdroj: Revue d'anthropologie des connaissances, Vol 19, Iss 3 (2025)

Predmety: ethnography, standardization, computational genomics, variant calling, precision medicine, personalized medicine, Sociology (General), HM401-1281

Popis súboru: electronic resource

Relation: https://journals.openedition.org/rac/38445; https://doaj.org/toc/1760-5393

Prístupová URL adresa: https://doaj.org/article/2682c7c0fd684e2d98aaf1afa8741893

Accurate and rapid single nucleotide variation detection in PCSK9 gene using nanopore sequencing

Autori: Ilaria Massaiu Vincenza Valerio Valentina Rusconi a ďalší

Zdroj: Frontiers in Medicine, Vol 12 (2025)

Predmety: third-generation sequencing, nanopore sequencing, single nucleotide variation, variant calling, PCSK9, cardiovascular disease, Medicine (General), R5-920

Popis súboru: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2025.1620405/full; https://doaj.org/toc/2296-858X

Prístupová URL adresa: https://doaj.org/article/8c2adccec93d47dd8ea21880b6c7bdfb

Pangenome graph mitigates heterozygosity overestimation from mapping bias: a case study in Chinese indigenous pigs

Autori: Jian Miao Qingyu Wang Zhe Zhang a ďalší

Zdroj: BMC Biology, Vol 23, Iss 1, Pp 1-12 (2025)

Predmety: Mapping bias, Pig, Pangenome, Genome graph, Variant calling, Biology (General), QH301-705.5

Popis súboru: electronic resource

Relation: https://doaj.org/toc/1741-7007

Prístupová URL adresa: https://doaj.org/article/285197f06701468ca69fd563d08e43d2

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples

Autori: Sonja Eberth Julia Koblitz Laura Steenpaß a ďalší

Zdroj: BMC Research Notes, Vol 18, Iss 1, Pp 1-7 (2025)

Predmety: Variant calling, RNA-seq, Breast cancer, Cancer cell lines, COSMIC, DSMZCellDive, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390

Popis súboru: electronic resource

Relation: https://doaj.org/toc/1756-0500

Prístupová URL adresa: https://doaj.org/article/c47bc3df040b49aa8e03a445be5bb583

Comparisons of aged samples and modern references provide algorithm for mtDNA analysis in challenging material

Autori: Maria Szargut Sandra Cytacka Joanna Dowejko a ďalší

Zdroj: Scientific Reports, Vol 15, Iss 1, Pp 1-13 (2025)

Predmety: Whole mitochondrial genome sequencing, Variant calling, Human identification, DNA degradation, Massively parallel sequencing, Medicine, Science

Popis súboru: electronic resource

Relation: https://doaj.org/toc/2045-2322

Prístupová URL adresa: https://doaj.org/article/386787368329452dbb4e9294329b1272

Fine-tuning GBS data with comparison of reference and mock genome approaches for advancing genomic selection in less studied farmed species

Autori: Daniel Fischer Miika Tapio Oliver Bitz a ďalší

Zdroj: BMC Genomics, Vol 26, Iss 1, Pp 1-17 (2025)

Predmety: Genotyping by sequencing, Snakemake, Variant calling, Cattle, Aquaculture, Repeatability, Biotechnology, TP248.13-248.65, Genetics, QH426-470

Popis súboru: electronic resource

Relation: https://doaj.org/toc/1471-2164

Prístupová URL adresa: https://doaj.org/article/f5a88a88d00441c58604ab9f7fd7a3c1

A Genome Resource for 192 Verticillium dahliae Isolates Infecting Potatoes Across Canada

Autori: Tanya Arseneault Joël Lafond-Lapalme Chary Esteban Quinche Gonzalez a ďalší

Zdroj: PhytoFrontiers, Vol 3, Iss 3, Pp 753-757 (2023)

Predmety: Potatoes--Diseases and pests--Canada, 2. Zero hunger, 0301 basic medicine, Whole-genome sequencing, 0303 health sciences, population genomics, variant calling, Minimum spanning network, Botany, Plant culture, 15. Life on land, phylogeny, SB1-1110, Verticillium dahliae, 03 medical and health sciences, minimum spanning network, whole-genome sequencing, QK1-989, Variant calling, Metagenomics, Soilborne plant pathogens, Potato production, Population genomics, Phylogeny

Popis súboru: application/pdf

Prístupová URL adresa: https://doaj.org/article/fb02b46ab0604af0946356955bcd5dd5

vvv2_align_SE, vvv2_align_PE/vvv2_display: Galaxy-Based Workflows and Tool Designed to Perform, Summarize and Visualize Variant Calling and Annotation in Viral Genome Assemblies

Autori: Alexandre Flageul Edouard Hirchaud Céline Courtillon a ďalší

Zdroj: Viruses, Vol 17, Iss 10, p 1385 (2025)

Predmety: virus, variant calling, display, bioinformatics, workflow, Microbiology, QR1-502

Popis súboru: electronic resource

Relation: https://www.mdpi.com/1999-4915/17/10/1385; https://doaj.org/toc/1999-4915

Prístupová URL adresa: https://doaj.org/article/64aba35514bf497f869d9e292a688854