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\t
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...
Detection of low-frequency variants with high accuracy plays an important role in biomedical research and clinical practice. However, it is challenging to do so with next-generation sequencing (NGS) approaches due to the high error rates of NGS. To accur
p53β and p53γ, are not fully considered in the molecular diagnosis of Li-Fraumeni syndrome and cancer. In our search for additional cancer predisposing variants, we identify a heterozygous stop-lost variant affecting the p53β
Human papillomavirus type 16 variant lineages in United States populations characterized by nucleotide sequence analysis of the E6, L2, and L1 coding segments J Virol., 69 (1995), pp. 7743-7753 CrossrefView in ScopusGoogle Scholar 16. T. Yamada, M.M. Manos, J. Peto, et al. Human papill...
Around 20% of the target is repre- sented by TTN coding regions. NGS workflow For library preparation of single samples, we followed the manufacturer's instructions (HaloPlex Target Enrich- ment System For Illumina Sequencing, Protocol version D, August 2012, Agilent Technologies, Santa Clara, ...
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...
BP4 should also be applied for synonymous, intronic, and noncoding variants for which SSF and MES predict either an increase in the canonical splice site score or a decrease in the canonical splice site score by no more than 10% and no putative cryptic splice sites are created BP5 Variant...
Non-coding genes represented a distinct class of in silico prediction challenges e.g. RNU4ATAC-related primordial dwarfism.b. Complex compound inheritance (Table 3): This phenomenon refers to recessive variants that only cause disease when inherited in trans with a different variant (see Allele ...
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...