Annotating pathogenic non-coding variants in genic regions-Reference-Cited by-同舟云学术

Annotating pathogenic non-coding variants in genic regions

Published:2017-08-09 Issue:1 Volume:8 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Gelfman Sahar^ORCID,Wang Quanli,McSweeney K. Melodi,Ren Zhong,La Carpia Francesca,Halvorsen Matt,Schoch Kelly,Ratzon Fanni,Heinzen Erin L.,Boland Michael J.,Petrovski Slavé^ORCID,Goldstein David B.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-017-00141-2.pdf

Reference51 articles.

1. Syrbe, S. et al. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat. Genet. 47, 393–9 (2015).

2. Rovelet-Lecrux, A. et al. De novo deleterious genetic variations target a biological network centered on Abeta peptide in early-onset Alzheimer disease. Mol. Psychiatry 20, 1046–56 (2015).

3. Zaidi, S. et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220–3 (2013).

4. Cirulli, E. T. et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347, 1436–41 (2015).

5. Steinberg, K. M., Yu, B., Koboldt, D. C., Mardis, E. R. & Pamphlett, R. Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS. Sci. Rep. 5, 9124 (2015).

Cited by 125 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Variant ranking pipeline for complex familial disorders;Scientific Reports;2024-06-13

2. ResNet Combined with Attention Mechanism for Genomic Deletion Variant Prediction;Automatic Control and Computer Sciences;2024-06

3. A deep catalogue of protein-coding variation in 983,578 individuals;Nature;2024-05-20

4. A second hotspot for pathogenic exon-skipping variants in CDC45;European Journal of Human Genetics;2024-03-11

5. Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing;npj Systems Biology and Applications;2024-03-07