Splicing mutations in human genetic disorders: examples, detection, and confirmation
A Anna, G Monika - Journal of applied genetics, 2018 - Springer
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the
presence of consensus “cis” sequences that define exon-intron boundaries and regulatory …
presence of consensus “cis” sequences that define exon-intron boundaries and regulatory …
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
Background Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …
Alternative tumour-specific antigens
The study of tumour-specific antigens (TSAs) as targets for antitumour therapies has
accelerated within the past decade. The most commonly studied class of TSAs are those …
accelerated within the past decade. The most commonly studied class of TSAs are those …
Neoantigens: promising targets for cancer therapy
Recent advances in neoantigen research have accelerated the development and regulatory
approval of tumor immunotherapies, including cancer vaccines, adoptive cell therapy and …
approval of tumor immunotherapies, including cancer vaccines, adoptive cell therapy and …
The expanding landscape of alternative splicing variation in human populations
Alternative splicing is a tightly regulated biological process by which the number of gene
products for any given gene can be greatly expanded. Genomic variants in splicing …
products for any given gene can be greatly expanded. Genomic variants in splicing …
In silico prediction of splice-altering single nucleotide variants in the human genome
X Jian, E Boerwinkle, X Liu - Nucleic acids research, 2014 - academic.oup.com
In silico tools have been developed to predict variants that may have an impact on pre-
mRNA splicing. The major limitation of the application of these tools to basic research and …
mRNA splicing. The major limitation of the application of these tools to basic research and …
The human splicing code reveals new insights into the genetic determinants of disease
INTRODUCTION Advancing whole-genome precision medicine requires understanding how
gene expression is altered by genetic variants, especially those that are far outside of …
gene expression is altered by genetic variants, especially those that are far outside of …
[HTML][HTML] Systematic analysis of splice-site-creating mutations in cancer
For the past decade, cancer genomic studies have focused on mutations leading to splice-
site disruption, overlooking those having splice-creating potential. Here, we applied a …
site disruption, overlooking those having splice-creating potential. Here, we applied a …
Saturation editing of genomic regions by multiplex homology-directed repair
Saturation mutagenesis,—coupled to an appropriate biological assay—represents a
fundamental means of achieving a high-resolution understanding of regulatory and protein …
fundamental means of achieving a high-resolution understanding of regulatory and protein …