المؤلفون: Charles E. Breeze, Eric Haugen, María Gutierrez-Arcelus, Xiaozheng Yao, Andrew Teschendorff, Stephan Beck, Ian Dunham, John Stamatoyannopoulos, Nora Franceschini, Mitchell J. Machiela, Sonja I. Berndt

المصدر: Genome Biology, Vol 25, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Gene regulation, Functional annotation, Variant scoring, Regulatory elements, Genome-wide association study (GWAS), Expression quantitative trait locus (eQTL), Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/9f08d77a09614b38b12d6c983e37bd21

المؤلفون: Breeze, Charles E, Haugen, Eric, Gutierrez-Arcelus, María, Yao, Xiaozheng, Teschendorff, Andrew, Beck, Stephan, Dunham, Ian, Stamatoyannopoulos, John, Franceschini, Nora, Machiela, Mitchell J, Berndt, Sonja I

المصدر: Genome Biology , 25 (1) , Article 3. (2024)

مصطلحات موضوعية: Gene regulation, Functional annotation, Variant scoring, Regulatory elements, Genome-wide association study (GWAS), Expression quantitative trait locus (eQTL), Massively parallel reporter assay (MPRA), Activity-by-contact (ABC), DNase-seq, Transcription factor (TF), CRISPR (clustered regularly interspaced short palindromic repeats), Single guide RNA (sgRNA)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10185342/1/s13059-023-03126-1.pdf; https://discovery.ucl.ac.uk/id/eprint/10185342/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10185342/1/s13059-023-03126-1.pdf
https://discovery.ucl.ac.uk/id/eprint/10185342/

المساهمون: Erping Long, Jinhu Yin, Karen M Funderburk, Mai Xu, James Feng, Alexander Kane, Tongwu Zhang, Timothy Myers, Alyxandra Golden, Rohit Thakur, Hyunkyung Kong, Lea Jessop, Eun Young Kim, Kristine Jones, Raj Chari, Mitchell J Machiela, Kai Yu, Melanoma Meta-Analysis Consortium, Mark M Iles, Maria Teresa Landi, Matthew H Law, Stephen J Chanock, Kevin M Brown, Jiyeon Choi, Kim, Eun Young

مصطلحات موضوعية: Biological Assay, Genome-Wide Association Study, Humans, Melanoma* / genetics, Receptors, G-Protein-Coupled, Skin Neoplasms* / genetics, Transcription Factors, CRISPRi, GWAS, GWAS follow-up, MPRA, cell of tumor origin, cell-type specificity, eQTL, melanoma, variant scoring

Relation: AMERICAN JOURNAL OF HUMAN GENETICS; J00086; OAK-2022-10235; https://ir.ymlib.yonsei.ac.kr/handle/22282913/193247; https://www.sciencedirect.com/science/article/pii/S0002929722004979; T202300834; AMERICAN JOURNAL OF HUMAN GENETICS, Vol.109(12) : 2210-2229, 2022-12

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/193247
https://doi.org/10.1016/j.ajhg.2022.11.006
https://www.sciencedirect.com/science/article/pii/S0002929722004979

المؤلفون: Long, Erping, Yin, Jinhu, Funderburk, Karen M., Xu, Mai, Feng, James, Kane, Alexander, Zhang, Tongwu, Myers, Timothy, Golden, Alyxandra, Thakur, Rohit, Kong, Hyunkyung, Jessop, Lea, Kim, Eun Young, Jones, Kristine, Chari, Raj, Machiela, Mitchell J., Yu, Kai, Iles, Mark M., Landi, Maria Teresa, Law, Matthew H., Chanock, Stephen J., Brown, Kevin M., Choi, Jiyeon, other, and

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: cell of tumor origin, cell-type specificity, CRISPRi, eQTL, GWAS, GWAS follow-up, melanoma, MPRA, transcription factors, variant scoring

وصف الملف: application/pdf

Relation: https://eprints.qut.edu.au/239829/1/Erping_2022_submitted_version.pdf; Long, Erping, Yin, Jinhu, Funderburk, Karen M., Xu, Mai, Feng, James, Kane, Alexander, Zhang, Tongwu, Myers, Timothy, Golden, Alyxandra, Thakur, Rohit, Kong, Hyunkyung, Jessop, Lea, Kim, Eun Young, Jones, Kristine, Chari, Raj, Machiela, Mitchell J., Yu, Kai, Iles, Mark M., Landi, Maria Teresa, Law, Matthew H., Chanock, Stephen J., Brown, Kevin M., Choi, Jiyeon, & other, and (2022) Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity. American Journal of Human Genetics, 109(12), pp. 2210-2229.; https://eprints.qut.edu.au/239829/; Faculty of Health; School of Biomedical Sciences

الاتاحة: https://eprints.qut.edu.au/239829/

المؤلفون: Riché-Piotaix, Quentin

المساهمون: Laboratoire d'Informatique et d'Automatique pour les Systèmes (LIAS), Université de Poitiers-ENSMA, Université de Poitiers, Patrick Girard, Frédéric Bilan, STAR, ABES

المصدر: Bio-informatique [q-bio.QM]. Université de Poitiers, 2019. Français. ⟨NNT : 2019POIT2333⟩

مصطلحات موضوعية: Exome sequencing, Bioinformatic, [SDV.GEN]Life Sciences [q-bio]/Genetics, Variant Scoring, Construction semi-Automatique d'ontologie, Programmation basée sur l'exemple, [SDV.GEN] Life Sciences [q-bio]/Genetics, Exemple-Based Programming, Maladies Rares, Programmation par l'utilisateur final, Rare diseases, Human-Computer Interaction, Database, Interaction Homme Machine, Bioinformatique, Genetic, Séquençage d'exome, Base de données, Ontologies, End-User Programming, Variant Ranking, Semi-Automatic Ontologies Building, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Génétique, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::54f68b8603c434b72905e274cd0470f5
https://tel.archives-ouvertes.fr/tel-03421058/document

المؤلفون: Riché-Piotaix, Quentin

المساهمون: Laboratoire d'informatique et d'automatique pour les systèmes EA 6315 (LIAS Poitiers ), Université de Poitiers = University of Poitiers (UP)-École Nationale Supérieure de Mécanique et d’Aérotechnique Poitiers (ISAE-ENSMA ), Ingénierie des Données et des moDèles (IDD), Université de Poitiers = University of Poitiers (UP)-École Nationale Supérieure de Mécanique et d’Aérotechnique Poitiers (ISAE-ENSMA )-Université de Poitiers = University of Poitiers (UP)-École Nationale Supérieure de Mécanique et d’Aérotechnique Poitiers (ISAE-ENSMA ), Université de Poitiers, Patrick Girard, Frédéric Bilan

المصدر: https://theses.hal.science/tel-03421058 ; Bio-informatique [q-bio.QM]. Université de Poitiers, 2019. Français. ⟨NNT : 2019POIT2333⟩.

مصطلحات موضوعية: Genetic, Exome sequencing, Rare diseases, Bioinformatic, Human-Computer Interaction, End-User Programming, Exemple-Based Programming, Ontologies, Semi-Automatic Ontologies Building, Database, Variant Ranking, Variant Scoring, Génétique, Séquençage d'exome, Maladies Rares, Bioinformatique, Interaction Homme Machine, Programmation par l'utilisateur final, Programmation basée sur l'exemple, Construction semi-Automatique d'ontologie, Base de données, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: NNT: 2019POIT2333; tel-03421058; https://theses.hal.science/tel-03421058; https://theses.hal.science/tel-03421058/document; https://theses.hal.science/tel-03421058/file/2019-RICHE-PIOTAIX-Quentin-These.pdf

الاتاحة: https://theses.hal.science/tel-03421058
https://theses.hal.science/tel-03421058/document
https://theses.hal.science/tel-03421058/file/2019-RICHE-PIOTAIX-Quentin-These.pdf

المؤلفون: Riché-Piotaix, Quentin

المساهمون: Poitiers, Girard, Patrick, Bilan, Frédéric

مصطلحات موضوعية: Génétique, Séquençage d'exome, Maladies Rares, Bioinformatique, Interaction Homme Machine, Programmation par l'utilisateur final, Programmation basée sur l'exemple, Ontologies, Construction semi-Automatique d'ontologie, Base de données, Variant Ranking, Variant Scoring, Genetic, Exome sequencing, Rare diseases, Bioinformatic, Human-Computer Interaction, End-User Programming, Exemple-Based Programming, Semi-Automatic Ontologies Building, Database, 004.019, 006.332, 611.018 166 3

Relation: http://www.theses.fr/2019POIT2333/document

الاتاحة: http://www.theses.fr/2019POIT2333/document