Define Sanger sequencing. Sanger sequencing synonyms, Sanger sequencing pronunciation, Sanger sequencing translation, English dictionary definition of Sanger sequencing. n. The determination of the sequence of nucleotides in a sample of DNA. American Her
Specifically, the goal is to characterize over 95% of variants that are in genomic regions accessible to current high-throughput sequencing technologies and that have allele frequency of 1% or higher (the classical definition of polymorphism) in each of five major population groups (populations in ...
AI generated definition based on:Pathobiology of Human Disease,2014 Discover other topics Chapters and Articles You might find these chapters and articles relevant to this topic. Genetics of Epilepsy IngoHelbig, inProgress in Brain Research, 2014 ...
To evaluate the function of the non-coding regions of the genome, which comprise over 98% of the genome and are largely unknown, we assessed the evolutionary conservation of the novel non-coding transcripts. We used phyloP and phastCons scores to perform sequence conservation analysis and found t...
TheStep Functiondefinition of our bioinformatic pipeline, in JSON format. Refer to the Step Function documentation for the specifications of the format. All executed commands are found in theParameters.Parameters.COMMANDentry of each Step of the Worfklow. ...
providing a single-gene level error characterization. The post hoc table was obtained by finding the smallest sequencing depth such that the relative error was smaller than 0.1 (−2 in the log10 scale for the relative squared error and −1 for other errors, see Definition of errors in sim...
RNAseq and exome-based approaches aim to sample a proportion of thecoding regionsof the genome, with the former sampling actively transcribed mRNA at the time of sample collection, whereas the latter aims to samplegenomic DNAby using ‘baits’ to capture targeted regions of the genome. Capture...
A recent exome sequencing of >170,000 individuals identified rare coding variants in 35 genes for total cholesterol, LDLC, HDLC, triglycerides, or their ratios [13]. Indeed, identification of rare loss-of-function variants may reveal genes that can be targeted to prevent disease, such as the...
Most sequenced individuals had admixed Indigenous American, European and African ancestry, with extensive admixture from Indigenous populations in central, southern and southeastern Mexico. Indigenous Mexican segments of the genome had lower levels of coding variation but an excess of homozygous loss-of-...
Original Research Article © American College of Medical Genetics and Genomics Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation Maver Ales, MD1, Lovrecic Luca, MD, PhD1, Volk Marija, MD1, Rudolf Gorazd, MD, MSc1, Writzl Karin, MD, ...