Variant cd44-surface proteins, dna-sequences coding therefor, antibodies against such proteins and their use in diagnostics and therapyThe inventon relates to antibodies that react with a variant epilope in the extracellular region of a variant CD44 polypeptide, wherein the variant epitope has the...
1.66 Mb of the bases in segmental duplications with ≥95% similarity overlap with coding exons and 90.3% of these bases were well-mapped in the 45\(\times\)PacBio dataset (each position having at least\(20\times\)coverage and ≥90% of reads aligned to the position having MAPQ ≥30)...
Curious about using NGS in your research? Learn the basics of next-generation sequencing and find tips for getting started. Learn about NGS Data Analysis & Informatics Infrastructure & Pipeline Setup Sequencing Data Analysis Biological Data Interpretation All Informatics Education Next-generation ...
Curious about using NGS in your research? Learn the basics of next-generation sequencing and find tips for getting started. Learn about NGS Data Analysis & Informatics Infrastructure & Pipeline Setup Sequencing Data Analysis Biological Data Interpretation All Informatics Education Next-generation ...
How the evolution of selective genetic variation in adaptive immune receptors orchestrates the adaptation of human populations to contextual perturbations remains elusive. Here, we show that the G396R coding variant within the human immunoglobulin G1 (IgG1) heavy chain presents a concentrated prevalence...
in variant prioritization, with this limited improvement reflecting the relatively low frequency of splicing effects among coding variants. The importance of the genetic context on variant pathogenicity is further exemplified by the crucial role of variant allele frequency in predicting clinical annotations...
Alternative splicing of exons in pre-mRNA can lead to the expression of multiple different mature mRNAs from an individual gene, known as splice variants. Splice variants have been shown to play significant roles in human disease, particularly cancer and neurological disorders and they often are dif...
Using ALoFT to determine the impact of putative loss-of-function vari‑ ants in protein-coding genes. Nat Commun. 2017;8(1):382. 35. Bamford S, Dawson E, Forbes S, Clements J, Pettett R, Dogan A, et al. The COSMIC (Catalogue of Somatic Mutations in Cancer) database and web...
Before 2016, genetic testing for hereditary cancer syndromes was conducted on a gene-by-gene basis based on each patient’s clinical manifestations. For patients meeting classic LFS or Chompret criteria,TP53analysis was performed using Sanger sequencing of coding regions and MLPA (N = 105). ...
Notably, GTEx Muscle Top-4* did not provide improved sensitivity over 300K-RNA Top-4* for 19/88 of our variants associated with muscle disorders subject to RNA diagnostics on muscle samples (Extended Data Fig.3e). Therefore, we recommend the use of 300K-RNA Top-4* as prediction of the ...