Comparative Analysis Identifies Exonic Splicing Regulatory Sequences—The Complex Definition of Enhancers and Silencers

Splicing and multifactorial analysis of

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

✍ Phillip J. Whiley; Lucia Guidugli; Logan C. Walker; Sue Healey; Bryony A. Thomps 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 293 KB 👁 2 views

Clinical management of breast cancer families is complicated by identification of BRCA1 and BRCA2 sequence alterations of unknown significance. Molecular assays evaluating the effect of intronic variants on native splicing can help determine their clinical relevance. Twentysix intronic BRCA1/2 varia