Whole-exome sequencing is a widely used next-generation sequencing (NGS) method that involves sequencing the protein-coding regions of the genome. SNVs were annotated for effect on the encoded protein and for conservation by comparison versus sequences of 43 vertebrate species (15) and orthologues in fly and worm (see Methods). Target-enrichment is to select and capture exome from DNA samples. Exome sequencing combines NGS technology with the targeted capture and amplification of exons (approximately 40 Mbp of the genome). 2). ex14 promotes glioma progression by prolonging MET activity. The overall per-base error rate for this sample was 0.75%, with error rate increasing approximately 10-fold from base 20 to base 75 (Fig. The protein has 12 transmembrane domains and a C-terminal STAS domain (highlighted in blue). Despite volume depletion, his diapers were noted to be wet. All these were previously reported in the Database of Genomic Variants (20); none of these alter protein coding sequences (Table S2). For simplification, the mother's 10 siblings and the father's 8 siblings are not depicted in the pedigree. • Human whole exome sequencing, targeted region sequencing, and mRNA sequencing on Illumina HiSeq platform. Mapping data that constrain the location of the disease locus, animal models that produce similar phenotypes, and compelling biology can all contribute to identification of such loci; however, in the absence of such information, inference from the large number of variants in a single subject will be challenging. Genome-wide SNP genotyping was performed as described earlier. Figure 1. Identified variants were annotated based on novelty, impact on the encoded protein, conservation, and expression using an automated pipeline (SI Text). Human Whole Exome Sequencing; Mouse Whole Exome Sequencing; Clinical Whole Exome Sequencing (CLIA/CAP) Target Region Sequencing; ... NGS | whole … For heterozygote calls we required at least 10× coverage by reads with different start sites, base call with Phred-like (14) quality scores greater than 45, and the probability of the frequency of major and minor alleles deviating from the binomial distribution of at least 10−7. To learn more please see our Privacy Policy. This mutation was identified in 172 of 173 reads covering this base; reads of this base had divergent start and end points and were read from both strands; the remaining read of this base was neither WT nor this mutant (Fig. analyzed data; and M.C., U.I.S., W.J., and R.P.L. Substitutions at positions that are completely conserved from invertebrates to humans are highly likely to disrupt normal protein function (8), and we ranked the novel missense variants by conservation scores to identify the most likely functional mutations using the phyloP conservation score (Table S4). The mutational spectrum in HCCs with or without early recurrence. The specificity remains 99.9% at mean coverage of 30×. 3C). Figure 4. Note: The x-axis is position in reads, and the y-axis is percentage of each type of bases (A, T, G, C); different bases are distinguishable by different colors. All these patients had hypokalemia, metabolic alkalosis, and evidence of salt wasting. Mice, Mus musculus, are important model organisms for human disease research and drug development. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Pricing. 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