Search Results - "Structural variants"

1

Conference

TranSVPath: A TabTransformer-Based Model for Predicting the Pathogenicity of Structural Variants

Authors: Yang, Yaning, Wang, Jiawei, Wang, Xiaoqi, Xu, Liwen, Pan, Liangrui, Peng, Shaoliang

Source: 2024 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) Bioinformatics and Biomedicine (BIBM), 2024 IEEE International Conference on. :1289-1295 Dec, 2024

Relation: 2024 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)

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2

Conference

Sparse Negative Binomial Signal Recovery for Genomic Variant Prediction in Diploid Species

Authors: Munoz, Jocelyn Ornelas, Rutter, Erica M., Banuelos, Mario, Sindi, Suzanne S., Marcia, Roummel F.

Source: 2024 46th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) Engineering in Medicine and Biology Society (EMBC), 2024 46th Annual International Conference of the IEEE. :1-5 Jul, 2024

Relation: 2024 46th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC)

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3

Conference

Genetic Variant Detection Over Generations: Sparsity-Constrained Optimization Using Block-Coordinate Descent

Authors: Aburidi, Mohammed, Banuelos, Mario, Sindi, Suzanne, Marcia, Roummel

Source: 2023 IEEE International Symposium on Medical Measurements and Applications (MeMeA) Medical Measurements and Applications (MeMeA), 2023 IEEE International Symposium on. :1-5 Jun, 2023

Relation: 2023 IEEE International Symposium on Medical Measurements and Applications (MeMeA)

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4

Academic Journal

Large indel detection in region-based phased diploid assemblies from linked-reads

Authors: Can Luo, Brock A. Peters, Xin Maizie Zhou

Source: BMC Genomics, Vol 26, Iss S2, Pp 1-13 (2025)

Subject Terms: Structural variants, Phasing, Region-based, Diploid assembly, Linked-reads, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/475b87d106c94b1cacbf19de2c60e457

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5

Academic Journal

Benchmarking long-read structural variant calling tools and combinations for detecting somatic variants in cancer genomes

Authors: Safa Kerem Aydin, Kubra Celikbas Yilmaz, Ahmet Acar

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

Subject Terms: Tool benchmarking, Cancer genomics, Long-read sequencing, Somatic structural variants, SV calling tools, Whole-genome sequencing data, Medicine, Science

File Description: electronic resource

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

Access URL: https://doaj.org/article/852a469478bc4b5887f7f8c11794b9a1

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6

Academic Journal

Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report

Authors: Kovanda A, Miljanović O, Lovrečić L, Maver A, Hodžić A, Peterlin B

Source: Balkan Journal of Medical Genetics, Vol 27, Iss 2, Pp 87-93 (2025)

Subject Terms: optical genome mapping, ogm, structural variants (sv), genomic variants, rare disease genetic testing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2199-5761

Access URL: https://doaj.org/article/70176c3e15944bd1a8e270fef12e91ac

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7

Academic Journal

Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits

Authors: Ricardo A. Vialle, Katia de Paiva Lopes, Yan Li, Bernard Ng, Julie A. Schneider, Aron S. Buchman, Yanling Wang, Jose M. Farfel, Lisa L. Barnes, Aliza P. Wingo, Thomas S. Wingo, Nicholas T. Seyfried, Philip L. De Jager, Chris Gaiteri, Shinya Tasaki, David A. Bennett

Source: Genome Medicine, Vol 17, Iss 1, Pp 1-16 (2025)

Subject Terms: Alzheimer’s disease, Structural variants, GWAS, WGS, Cognitive decline, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/151316b502ea421f94132e164b1c77ed

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8

Academic Journal

MetArea: a software package for analysis of the mutually exclusive occurrence in pairs of motifs of transcription factor binding sites based on ChIP-seq data

Authors: V. G. Levitsky, A. V. Tsukanov, T. I. Merkulova

Source: Вавиловский журнал генетики и селекции, Vol 28, Iss 8, Pp 822-833 (2025)

Subject Terms: de novo motif search, pr curve, area under curve, structural variants of transcription factor binding site motifs, cooperative action of transcription factors, Genetics, QH426-470

File Description: electronic resource

Relation: https://vavilov.elpub.ru/jour/article/view/4404; https://doaj.org/toc/2500-3259

Access URL: https://doaj.org/article/2f9f6f1377fb405bb4d827e72d2bd6c6

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9

Academic Journal

A sequence context-based approach for classifying tumor structural variants without paired normal samples

Authors: Chukwu, Wolu ^{1, 2, 10}, Lee, Siyun ^{1, 2, 10}, Crane, Alexander ^{1, 2, 10}, Zhang, Shu ^{1, 2, 10}, Webster, Sophie ^{1, 2}, Dakhama, Oumayma ¹, Mittra, Ipsa ¹, Rauert, Carlos ³, Imielinski, Marcin ^{4, 5, 6, 7, 8, 9}, Beroukhim, Rameen ^{1, 2}, Dubois, Frank ^{1, 2, 3, 11, 12, ∗}, Dalin, Simona ^{1, 2, 11, ∗∗}

Source: In Cell Reports Methods 24 March 2025 5(3)

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10

Academic Journal

Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci

Authors: Natasha Berthold, Silvana Gaudieri, Sean Hood, Monika Tschochner, Allison L. Miller, Jennifer Jordan, Laura M. Thornton, Cynthia M. Bulik, Patrick Anthony Akkari, Martin A. Kennedy

Source: BMC Genomics, Vol 25, Iss 1, Pp 1-11 (2024)

Subject Terms: Eating disorders, Psychiatric genetics, Anorexia nervosa risk loci, Structural variants, Transposable elements, Nanopore sequencing, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/19723cf4d16f4b3e8dd4afa13e9ed11c

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11

Academic Journal

Optical genome mapping of structural variants in Parkinson’s disease-related induced pluripotent stem cells

Authors: Joanne Trinh, Susen Schaake, Carolin Gabbert, Theresa Lüth, Sally A. Cowley, André Fienemann, Kristian K. Ullrich, Christine Klein, Philip Seibler

Source: BMC Genomics, Vol 25, Iss 1, Pp 1-12 (2024)

Subject Terms: Optical genome mapping, iPSCs, Parkinson’s disease, Structural variants, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/cef0b56f4f56419a8a23798df35cef52

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12

Academic Journal

A comprehensive map of copy number variations in dromedary camels based on whole genome sequence data

Authors: Hussain Bahbahani, Zainab Mohammad, Abdulaziz Al-Ateeqi, Faisal Almathen

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Subject Terms: Copy number variants, Structural variants, Read-depth CNV caller, Split-read CNV callers, Paired-end mapping CNV caller, Medicine, Science

File Description: electronic resource

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

Access URL: https://doaj.org/article/a8a3ee0dc0294589b6e5666b603c1be5

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13

Academic Journal

Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7

Authors: Nicholas Pasternack, Ole Paulsen, Avindra Nath

Source: Frontiers in Genetics, Vol 16 (2025)

Subject Terms: DNA sequencing, HERV-K, HML-2, long-read sequencing, structural variants, tandem repeat, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2025.1498978/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/534a221bd2af4aa3807c6f462fa7624c

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14

Academic Journal

Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients

Authors: Nisha Sharma, Ashutosh Halder, Seema Kaushal, Manoj Kumar, Manish Jain

Source: Frontiers in Reproductive Health, Vol 6 (2025)

Subject Terms: whole exome sequencing, male infertility, structural variants, azoospermia, hypospermatogenesis, Reproduction, QH471-489, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/frph.2024.1494585/full; https://doaj.org/toc/2673-3153

Access URL: https://doaj.org/article/da8df23cda6648538f482254b2a62925

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15

Conference

An ensemble deep learning framework to refine large deletions in linked-reads

Authors: Yunfei, Hu, Mangal Sanidhya, V, Lu, Zhang, Xin, Zhou

Source: 2021 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) Bioinformatics and Biomedicine (BIBM), 2021 IEEE International Conference on. :288-295 Dec, 2021

Relation: 2021 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)

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16

Conference

Novel structural variant genome detection in extended pedigrees through negative binomial optimization

Authors: Lazar, Andrew, Banuelos, Mario, Sindi, Suzanne, Marcia, Roummel F.

Source: 2021 55th Asilomar Conference on Signals, Systems, and Computers Signals, Systems, and Computers, 2021 55th Asilomar Conference on. :563-567 Oct, 2021

Relation: 2021 55th Asilomar Conference on Signals, Systems, and Computers

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