Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations-Reference-Cited by-同舟云学术

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Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations

Published:2020-08-10 Issue:3 Volume:140 Page:457-475
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Jabato F. M.^ORCID,Seoane Pedro,Perkins James R.,Rojano Elena,García Moreno Adrián,Chagoyen M.,Pazos Florencio,Ranea Juan A. G.

Funder

Fundación Progreso y Salud

Instituto de Salud Carlos III

Junta de Andalucía

Fundación Ramón Areces

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-020-02214-7.pdf

Reference64 articles.

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2. Alexa A, Rahnenfuhrer J (2016) topGO: enrichment analysis for gene ontology. R package version 2.26.0 (2016)

3. Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A (2015) OMIM.org: online mendelian inheritance in man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res 43(D1):789–798. https://doi.org/10.1093/nar/gku1205

4. Andrews T, Honti F, Pfundt R, De Leeuw N, Hehir-Kwa J, Silfhout AVV, De Vries B, Webber C (2015) The clustering of functionally related genes contributes to CNV-mediated disease. Genome Res. https://doi.org/10.1101/gr.184325.114

5. Angelis D, Spiliotis ET (2016) Septin mutations in human cancers. Front Cell Dev Biol. https://doi.org/10.3389/fcell.2016.00122

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2. Network-Based Methods for Approaching Human Pathologies from a Phenotypic Point of View;Genes;2022-06-17

3. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research;Human Mutation;2022-02-21

4. Assigning protein function from domain-function associations using DomFun;BMC Bioinformatics;2022-01-15

5. Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer;Journal of Personalized Medicine;2021-07-27

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