Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences-Reference-Cited by-同舟云学术

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Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences

Published:2013-04 Issue:2 Volume:11 Page:77-85
ISSN:1672-0229
Container-title:Genomics, Proteomics & Bioinformatics
language:en
Short-container-title:Genomics, Proteomics & Bioinformatics

Author:

Shirley Ben C.,Mucaki Eliseos J.,Whitehead Tyson,Costea Paul I.,Akan Pelin,Rogan Peter K.

Funder

Natural Sciences and Engineering Research Council

Canadian Breast Cancer Foundation

Compute Canada

Canadian Foundation for Innovation

Canada Research Chairs

MITACS Accelerate

Ontario Graduate Scholarship Programs

Cytognomix Inc

Publisher

Elsevier BV

Subject

Computational Mathematics,Genetics,Molecular Biology,Biochemistry

Reference49 articles.

1. Next generation sequencing in clinical medicine: challenges and lessons for pathology and biomedical informatics;Gullapalli;J Pathol Inform,2012

2. Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome;Kavanagh;Kidney Int,2012

3. ENIGMA—evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes;Spurdle;Hum Mutat,2012

4. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

5. Automated splicing mutation analysis by information theory;Nalla;Hum Mutat,2005

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2. Functional assessment of somatic STK11 variants identified in primary human non-small cell lung cancers;Carcinogenesis;2021-11-19

3. Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing;Frontiers in Genetics;2020-03-05

4. Massive computational identification of somatic variants in exonic splicing enhancers using The Cancer Genome Atlas;Cancer Medicine;2019-10-21

5. Pan-cancer repository of validated natural and cryptic mRNA splicing mutations;F1000Research;2019-09-06

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