• He found that certain sequences of DNA known as Variable Number Tandem Repeats varied widely among individuals. (lindahall.org)
  • They are also less expensive to process than longer Variable Number Tandem Repeats used originally in forensic testing. (lindahall.org)
  • Eighty-four representative SNP markers were selected by comparing the sequences of three representative S . Tennessee strains with different multi-locus sequence typing and variable number tandem repeats from our collection. (biomedcentral.com)
  • The microsatellite analysis described herein is based on Short Tandem Repeats (STR). (nih.gov)
  • Today, standard DNA analysis is accomplished by testing 20 genetic markers known as Short Tandem Repeats (or STRs) that are selected for their high degree of variability between individuals. (lindahall.org)
  • 4. Quantitative analysis of chimerism after allogeneic stem cell transplantation by real-time polymerase chain reaction with single nucleotide polymorphisms, standard tandem repeats, and Y-chromosome-specific sequences. (nih.gov)
  • SpiroESTdb provides an integrated platform for expressed sequence data, expression dynamics, functional genes, genetic markers including single nucleotide polymorphisms and tandem repeats, gene ontology and KEGG pathway information. (biomedcentral.com)
  • 758. Fregeau, C.J., Bowen, K.L., and Fourney, R.M. (1999) Validation of highly polymorphic fluoresceht multiplex short tandem repeat systems using two generations of DNA sequencers. (nist.gov)
  • Microsatellites are tandem repeat DNA sequences that are common, highly polymorphic genetic elements within the eukaryotic genome. (nih.gov)
  • We also present a simple Illumina amplicon sequencing protocol to genotype microsatellites from multiplex PCR amplicons in the Hawaiian happy face spider T. grallator. (researchgate.net)
  • We discuss advantages and drawbacks of the use of microsatellites for a range of research questions, and highlight an unexpectedly fast decay and gain of repeat loci for T. grallator. (researchgate.net)
  • The amount of variation in this sample was assessed by measuring many types of genetic variations including Alu insertions, tandem repeats (microsatellites), restriction fragment length polymorphism, Y chromosome variants and alterations in autosomal gene regions. (nih.gov)
  • Here we show that a number of short-sequence tandem repeat (SSTR) loci are present in F. tularensis genomes and that two of these loci, SSTR9 and SSTR16, are together highly discriminatory. (nih.gov)
  • Labeled PCR amplification products from the loci were identified by an automated DNA sequencer for size determination, and each allelic variant was sequenced. (nih.gov)
  • We describe two tandem repeat loci, designated 'TR6' and 'TR10', which display extensive sequence variation that may be useful for sequence-based strain typing. (biomedcentral.com)
  • We conclude that sequence analysis of the two repetitive loci introduced here may be highly useful for routine typing of C. difficile . (biomedcentral.com)
  • We successfully map tens of thousands of previously discarded RNA-Seq reads to this reference and identify transcription evidence in 4781 gene loci, underlining the importance of these non-reference sequences in functional genomics. (nature.com)
  • 61. Clayton, T.M., Whitaker, J.P. and Maguire, C.N. (1995) Identification of bodies from the scene of a mass disaster using DNA amplification of short tandem repeat (STR) loci. (nist.gov)
  • 2013), who found that including less informative loci added so much noise to the phylogenetic signal that the analysis eventually broke down. (blogspot.com)
  • For example, 11 of 12 strains isolated in the Ljusdal area, Sweden in 1995 and 1998 had identical allelic variants. (nih.gov)
  • A recent analysis of the complete sequences of the Helicobacter pylori strains 26695 and J99 has identified 46 putative phase-variable genes among the two genomes through their association with homopolymeric tracts and dinucleotide repeats. (biomedcentral.com)
  • DNA sequences may be stored in databases accessible over the internet, obviating the need for the exchange of reference strains. (biomedcentral.com)
  • The 1291 bp sequence was present in M. tuberculosis , Mycobacterium bovis and M. bovis BCG, but was not present in many of the other mycobacterial strains tested, including M. tuberculosis H37Ra. (microbiologyresearch.org)
  • PCR-RFLP analyses on 46 restriction sites revealed no variations in mtDNA D-loop(displacement loop), tRNA Met+Glu+Ile and ND3 (NADH dehydrogenase subunit 3) gene fragments in these strains. (silverchair.com)
  • The former is highly conserved in structure, whereas the NTS is polymorphic in both length and nucleotide sequence. (biomedcentral.com)
  • The first phase of resequencing, now complete, extended from 1998 to 2003 and focused on polymorphic variants in approximately 200 DNA repair and cell cycle genes. (nih.gov)
  • Although the sequence with expanded polyglutamine could not be identified by liquid-chromatography mass spectrometry, amino acid analysis revealed that glutamine of the huntingtin inclusion-rich fraction increased significantly. (biomedcentral.com)
  • The whole sequence of recombinant Tα1 was identified by tandem mass spectrometry and its N-terminal serine residue was shown to be acetylated. (biomedcentral.com)
  • To achieve enhanced sensitivity and selectivity, the phenols have been derivatized to alkyl or acyl derivatives before GC-mass spectrometry (GC/MS) analysis. (cdc.gov)
  • The method uses solid phase extraction (SPE) coupled on-line to HPLC and tandem mass spectrometry (MS/MS). With the use of isotopically labeled internal standards, the detection limits in 100 μL of urine are 0.1-2 nanograms per milliliter (ng/mL), sufficient for measuring urinary levels of phenols in non-occupationally exposed subjects. (cdc.gov)
  • Metabolites were quantified using reversed-phase ultra-high performance liquid chromatography and electrospray ionization tandem mass spectrometry. (cdc.gov)
  • Simpson's index of diversity was 0.97 based on an analysis of 39 nonrelated F. tularensis isolates. (nih.gov)
  • Based on an investigation of 154 C. difficile isolates comprising 75 ribotypes, tandem repeat sequencing demonstrated excellent concordance with widely used PCR ribotyping and equal discriminatory power. (biomedcentral.com)
  • Moreover, tandem repeat sequences enabled the reconstruction of the isolates' largely clonal population structure and evolutionary history. (biomedcentral.com)
  • The sequence displayed RFLP among the clinical isolates. (microbiologyresearch.org)
  • Analysis of Mycobacterium tuberculosis isolates from a state with a large rural population. (microbiologyresearch.org)
  • a 300-bp dna sequence has been determined for 30 (10 from each of three species of mice) random isolates of a subset of the long interspersed repeat family l1. (liverpool.ac.uk)
  • The complete nucleotide sequences of 11 isolates have been determined. (ictv.global)
  • Recent advances in the cost and utility of second generation, high-throughput sequencing technologies have made it possible for ten conifer reference genomes to be assembled ( http://www.pinegenome.org/pinerefseq ). (plos.org)
  • We present our hash function as well as our search algorithm to locate small sequences of DNA within multiple genomes. (biomedcentral.com)
  • Together with previously reported mitochondrial genome sequences of the pol and nap mitotypes in B. napus [ 6 , 7 ], we compared the six mitochondrial genome sequences to learn the mechanism of formation for Brassica mitochondrial genomes. (biomedcentral.com)
  • Despite the fact that the organization of the ciliate mitochondrial genome is exceptional, only few ciliate mitochondrial genomes have been sequenced until today. (biomedcentral.com)
  • This gene is ~1,350 amino acid residues long, shows extreme sequence divergence among Tetrahymena species and has no homolog in the P. tetraurelia or Euplotes mitochondrial genomes. (biomedcentral.com)
  • However, these analyses provided weak supportive results because they were based on only one of several genes. (frontiersin.org)
  • Together, this sequence represents 280 Mbp (roughly 1% of the loblolly pine genome) and one of the most comprehensive studies of repetitive elements and genes in a gymnosperm species. (plos.org)
  • In addition to repeats, analysis of the coding region reported 23 full-length eukaryotic orthologous proteins (KOGS) and another 29 novel or orthologous genes. (plos.org)
  • For instance, whole genomic array analysis in yeast has revealed 22 PHO-regulated genes. (biomedcentral.com)
  • The complex polyploid nature of the genome of bread wheat, Triticum aestivum , and the technically difficult task of sequencing clusters of tandem repeats mean that the detailed organization of extended genomic regions containing 5S rRNA genes remains unclear. (biomedcentral.com)
  • Genes are part of the DNA sequence called coding DNA. (encyclopedia.com)
  • Noncoding DNA represents sequences that do not have genes and only recently have been found to have many new important functions. (encyclopedia.com)
  • Out of the 3 billion base pairs that exist in human DNA, the sequence obtained from the Human Genome Project has revealed that there are only about 30, 000 genes. (encyclopedia.com)
  • They are explained in terms of replication errors or parasitic sequences while protein coding genes are assumed to be the primary functional unit of the cell. (biologicalinformationnewperspectives.org)
  • Others search for variable length tandem repeats (VLTR) and multi-period tandem repeats (MPTR) [ 8 ]. (biomedcentral.com)
  • An optically stable, novel class of fluorophores (quantum dots) for in situ hybridisation analysis was tested to investigate their signal stability and intensity in plant chromosome analyses. (biomedcentral.com)
  • Using the results of pyrosequencing and assembling, we obtained six 5S rDNA- containing contigs with a total length of 140,417 bp, and two sets (pools) of individual 5S rDNA sequences belonging to separate, but closely located genomic regions on the 5BS chromosome. (biomedcentral.com)
  • A chromosome is a threadlike structure found in the nucleus of most cells that carries the genetic material in the form of a linear sequence of deoxyribonucleic acid (DNA). (encyclopedia.com)
  • HTS-based SNP (single nucleotide polymorphism) genotyping protocols like RAD (Restriction-site associated DNA) sequencing or hybrid capture allow for the isolation of thousands of markers from any non-model organism. (researchgate.net)
  • Goal 1: To determine sensitivity and specificity of microsatellite analysis (MSA) of urine sediment, using a panel of 15 microsatellite markers, in detecting bladder cancer in participants requiring cystoscopy. (nih.gov)
  • Goal 2: To determine the temporal performance characteristics of microsatellite analysis of urine sediment. (nih.gov)
  • 1998)10 showed that microsatellite markers had high sensitivity and specificity in detecting bladder cancer in the voided urine specimens (Mao, Schoenberg, Scicchitano et al. (nih.gov)
  • 1998).10 Further development of microsatellite testing to improve specificity, speed of testing, and operator efficiency may improve bladder cancer management. (nih.gov)
  • We present low coverage genome sequencing data from seven distantly related spider species (Argiope bruennichi (Scopoli, and show the utility of HTS for microsatellite isolation. (researchgate.net)
  • Autosomal microsatellite analyses provide evidence for genetic monogamy in a pair-living primate with bi-parental care, the Azara's owl monkey (Aotus azarae). (moam.info)
  • Recent phylogenetic analyses based on the complete chloroplast genome sequence suggested strong support for the position of Vitaceae as the earliest diverging lineage of rosids and placed it as a sister to the remaining rosids. (frontiersin.org)
  • To test this question, we determined the mitochondrial genome sequence of Paramecium caudatum and compared the gene content and sequence properties to the closely related P. tetraurelia . (biomedcentral.com)
  • Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence. (microbiologyresearch.org)
  • Each segment was then evaluated for the following criteria: GC content of 50% or greater length greater than 200 bp ratio greater than 0.6 of observed number of CG dinucleotides to the expected number on the basis of the number of Gs and Cs in the segment The entire genome sequence, masking areas included, was used for the construction of the track Unmasked CpG. (ucsc.edu)
  • The celebration featured a NHGRI-sponsored Scientific Symposium: From Double Helix to Human Sequence - and Beyond , and several satellite symposia on related topics. (nih.gov)
  • MEGA: a biologist-centric software for evolutionary analysis of DNA and protein sequences. (geneticsmr.com)
  • The rooting of the ancestral mitochondria within the Alphaproteobacteria has not yet been resolved, but better phylogenetic methodology and new mitochondrial and bacterial genome sequences offer opportunities to refine understanding of this singular evolutionary event. (nature.com)
  • We analyzed the evolutionary relationships of Brassica mitotypes by sequencing. (biomedcentral.com)
  • We have sequenced four Brassica mitotypes, compared six Brassica mitotypes and suggested a mechanism for mitochondrial genome formation in Brassica , including evolutionary events such as inheritance, duplication, rearrangement, genome compaction, and mutation. (biomedcentral.com)
  • To understand the evolutionary peculiarity of plant mitotypes, which are defined as mitochondrial genome types of which there can be more than one within one plant species or genus, more systematic sequences are needed. (biomedcentral.com)
  • Here, we selected Brassica as an evolutionary clade in which to analyze the evolutionary relationships of Brassica mitotypes by sequencing. (biomedcentral.com)
  • Pumilio family members are characterised by the presence of eight tandem copies of an imperfectly repeated 36 amino acids sequence motif, the Pumilio repeat, surrounded by a short N- and C-terminal conserved region. (embl-heidelberg.de)
  • The TPR motif consists of 3-16 tandem-repeats of 34 amino acids residues, although individual TPR motifs can be dispersed in the protein sequence. (embl.de)
  • Sequence alignment of the TPR domains reveals a consensus sequence defined by a pattern of small and large amino acids. (embl.de)
  • Other expanded repeats can be translated into proteins containing a pathogenic stretch of repeated amino acids by a novel mechanism called repeat-associated non-AUG (RAN) translation [ 12 ], and these proteins could contain compositionally biased amino acids. (biomedcentral.com)
  • The structure of the tetratricopeptide repeats of protein phosphatase 5: implications for TPR-mediated protein-protein interactions. (embl.de)
  • The tetratricopeptide repeat (TPR) is a degenerate 34 amino acid sequence identified in a wide variety of proteins, present in tandem arrays of 3-16 motifs, which form scaffolds to mediate protein-protein interactions and often the assembly of multiprotein complexes. (embl.de)
  • The TPR snap helix: a novel protein repeat motif from mitosis to transcription. (embl.de)
  • Each block of three nucleotides, called codons, in the mRNA sequence encodes for a specific amino acid , the building blocks of a protein. (encyclopedia.com)
  • Even cytoplasmic inclusions can be formed by accumulation of misfolded proteins, such as ⍺-synuclein in Parkinson disease (PD) or tau protein in Alzheimer disease (AD), which are thought to contain LCRs in their sequences. (biomedcentral.com)
  • 2. Establishing the method of chimerism monitoring after allogeneic stem cell transplantation using multiplex polymerase chain reaction amplification of short tandem repeat markers and Amelogenin. (nih.gov)
  • This novel PCR approach, which we have termed ESRA for endonuclease-sensitive repeat amplification, is easy to use, results in high yields, and can be accomplished at low costs. (nih.gov)
  • In this paper, two sets of loblolly pine genomic sequence, 103 previously assembled BACs and 90,954 newly sequenced and assembled fosmid scaffolds, were analyzed. (plos.org)
  • This track may also be configured to display codon coloring, a feature that allows the user to quickly compare mRNAs against the genomic sequence. (ucsc.edu)
  • Only alignments having a base identity level within 0.5% of the best and at least 96% base identity with the genomic sequence were kept. (ucsc.edu)
  • High throughput sequencing (HTS) has emerged as a valuable tool for the rapid isolation of genetic markers for population genetics and pedigree analysis. (researchgate.net)
  • Despite their prevalence and importance, the genome sequences of loblolly pine, Norway spruce, and white spruce, three ecologically and economically important conifer species, are just becoming available to the research community. (plos.org)
  • Based on the unweighted pair group method with arithmetic mean (UPGMA) analysis and principal coordinate analysis (PCoA) using the Jaccard coefficient, two different dendrograms were constructed-one including accessions grouped by species and one with all 104 accessions-and a two-dimensional plot was obtained. (ashs.org)
  • Our system applies information retrieval algorithms to discover knowledge of cross-species conservation of repeat sequences. (biomedcentral.com)
  • To date, no systematic sequences of one angiosperm genus with multiple species had been used to analyze the derivation of mitochondrial genome, and thus the mechanism underlying the peculiarity has not been revealed. (biomedcentral.com)
  • Further analyses indicated that the nucleotide composition of most members of the genus Paramecium resembles that of P. caudatum and that the shift observed in P. tetraurelia is restricted to the P. aurelia species complex. (biomedcentral.com)
  • Therefore, to fill in one of the above mentioned gaps, we decided to sequence the mitochondrial genome of P. caudatum , a close relative of the P. aurelia species complex, in order to elucidate the mitochondrial genome evolution within this important ciliate genus. (biomedcentral.com)
  • A phylogenetically corrected generalized least square analysis was used to relate male care and strength of the pair bond to their genetic mating system (i.e. proportions of EPP) in 15 socially monogamous mammalian species. (moam.info)
  • Over 60% of the repetitive sequence consists of full or partial LTR (long terminal repeat) retrotransposons. (plos.org)
  • We conduct an exhaustive time analysis of our system for various repetitive sequence lengths. (biomedcentral.com)
  • A repetitive sequence specific to Mycobacterium tuberculosis was isolated from a λ gt11 library of M. tuberculosis by DNA-DNA hybridization using genomic DNA of M. tuberculosis as probe followed by subtractive hybridization with a cocktail of other mycobacterial DNA. (microbiologyresearch.org)
  • The sequences reported in this paper have been deposited in the NCBI database, under accession numbers HS514072-HS519705. (biomedcentral.com)
  • Methods CpG islands were predicted by searching the sequence one base at a time, scoring each dinucleotide (+17 for CG and -1 for others) and identifying maximally scoring segments. (ucsc.edu)
  • Similarity analysis estimated a repetitive content of 27% that included both full and partial elements. (plos.org)
  • Inter-simple sequence repeat (ISSR) markers were used to evaluate genetic similarity and interrelationship among 104 plum ( Prunus L. spp. (ashs.org)
  • Generally, there are three criteria used to infer HT events: (1) high sequence similarity of TEs from divergent taxa, (2) incongruence between TE and host phylogeny, and (3) a patchy TE distribution within a group of taxa [ 7 , 8 ]. (biomedcentral.com)
  • To resolve a well-supported eumalacostracan phylogeny and obtain a robust tree, it will be necessary to look beyond the most commonly utilized sources of data (nuclear ribosomal and mitochondrial sequences). (wikipedia.org)
  • In the present study, we sequenced the complete chloroplast genome of A. brevipedunculata and used these data to assess the relationships among 32 angiosperms, including 18 taxa of rosids. (frontiersin.org)
  • Burleigh and Mathews (2004) reported that based on rootings of phylogenetic tree analysis of DNA sequences data suggested that angiosperms are sister group to all other seed plants, whereas, Ginkgo and cycads separate angiosperm groups. (frontiersin.org)
  • The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. (plos.org)
  • We present a time-efficient algorithm to locate small segments of DNA and concurrently to search the annotation data accompanying the sequence. (biomedcentral.com)
  • Typing procedures based on DNA sequences overcome these limitations, since sequence data may easily be exchanged and stored in databases that are accessible via the internet. (biomedcentral.com)
  • Thus, all WGS data analyses to-date are based on an "incomplete" human reference genome, potentially missing important signals residing in NUIs. (nature.com)
  • Loss of MUC1 20 amino acid variable number introduce our RNA sequencing (RNA-seq) data for the tandem repeats, which is used to elicit immune response, NCI-60 and their access and integration with the other and the presence of the androgen receptor AR-V4 and databases. (nih.gov)
  • Credits The mRNA track was produced at UCSC from mRNA sequence data submitted to the international public sequence databases by scientists worldwide. (ucsc.edu)
  • Comprehensive descriptions of the sparganum content of all sequenced data are available, including summary reports. (biomedcentral.com)
  • This integrative web-based database of sequence data, functional annotations and expression profiling data will serve as a useful tool to help understand and expand the characterization of parasitic infections. (biomedcentral.com)
  • from these data we conclude that members of the l1 family are evolving in concert at the dna sequence level in mus domesticus, mus caroli, and mus platythrix. (liverpool.ac.uk)
  • However, Skittle is also more generally useful for analysis of any genomic data, allowing users to correlate published annotations and observable visual patterns, and allowing for sequence and construct quality control. (biomedcentral.com)
  • His specialties are data visualization and sequence analysis. (biologicalinformationnewperspectives.org)
  • In all three cases, the relationships were just as complex after the genome sequencing as before - the resolution of controversial branches in our trees did not occur as a result of increased access to character data. (blogspot.com)
  • Complete nucleotide sequence and genome organization of a Drosophila transposable genetic element, 297. (geneticsmr.com)
  • Furthermore, PCR-SSCP analyses demonstrated no variations in D-loop 5′ and 3′ end fragments in them. (silverchair.com)
  • Preliminary observations using Skittle reveal intriguing genomic patterns not otherwise obvious, including structured variations inside tandem repeats. (biomedcentral.com)
  • However, using sequence visualization tools, what is actually observed in the human genome is that repetitive sequences contain many variations without exception. (biologicalinformationnewperspectives.org)
  • 5S rDNA has long been a favored target for cytological and phylogenetic studies due to the inherent peculiarities of its structural organization, such as the tandem arrays of repetitive units and their high interspecific divergence. (biomedcentral.com)
  • The end sequences are present as two flip-flop forms that are inverted and complementary with respect to each other, and adjacent to both termini are identical tandem repeat arrays about 2.1 kbp long. (ictv.global)
  • The human reference genome represents a first attempt to produce a telomere to telomere assembly of the human genome and provides a universal coordinate system to which all human sequences from subsequent work are aligned and compared. (nature.com)
  • Third, some regions of the human genome consist of long, near-identical sequences that are highly variable from person to person. (nature.com)
  • Used to support large-scale mapping and sequencing efforts related to the human genome project, FISH accuracy and versatility were subsequently capitalized on in biological and medical research, providing a wealth of diverse applications and FISH-based diagnostic assays. (biosyn.com)
  • In April 2003, the National Human Genome Research Institute (NHGRI) and the National Institutes of Health (NIH) celebrated the 50th anniversary of Watson and Crick's Nobel Prize-winning work on the double-helical structure of DNA and the completion of a final version of the sequence of the human genome. (nih.gov)
  • To improve genome annotations, we linearly integrate these sequences into the chromosomal assemblies and construct a Human Diversity Reference. (nature.com)
  • As a combined molecular and cytological approach, the major advantage of this visually appealing technique resides in its unique ability to provide an intermediate degree of resolution between DNA analysis and chromosomal investigations while retaining information at the single-cell level. (biosyn.com)
  • Conceptually, FISH is a very straightforward technique that essentially consists in hybridizing a DNA probe to its complementary sequence on chromosomal preparations previously fixed on slides. (biosyn.com)
  • expression divergence, rather than sequence divergence, has been shown to be important in speciation, particularly in the early stages of divergence of traits involved in reproductive isolation. (liverpool.ac.uk)
  • 660. Chowdhury, M.R., Mathur, R., and Verma, I.C. (1998) Utility of XY-amelogenin gene primers for detection of sex chromosomes. (nist.gov)
  • Adjacent TPR motifs are packed together in a parallel arrangement such that a tandem TPR motif structure is composed of a regular series of antiparallel alpha-helices. (embl.de)
  • These are excellent at detecting repeats and other genomic motifs, but most lack a high quality visualization feature. (biomedcentral.com)
  • These two regions differ in the organization of both 5S rDNA and the neighboring sequences comprised of transposable elements, implying different modes of evolution for these regions. (biomedcentral.com)
  • However, Ning, Cox, and Mullikin [ 10 ] have developed a different type of algorithm called 'Sequence Search and Alignment by Hashing Algorithm', SSAHA, that stores information about the locations of DNA words into a hash table. (biomedcentral.com)
  • Also, the algorithm glosses over indels in repeat regions, while Skittle often reveals interesting indel patterns. (biomedcentral.com)
  • Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination. (microbiologyresearch.org)
  • 688. Akane, A. (1998) Sex determination by PCR analysis of the X-Y amelogenenin gene. (nist.gov)
  • Following the completion of these large assemblies, annotation efforts will be undertaken to characterize the reference sequences. (plos.org)
  • SCA1 is a hereditary neurodegenerative disease caused by an expanded CAG repeat in the coding sequence of the gene. (biomedcentral.com)
  • Nevertheless, we are sometimes told things like: "The fields of phylogenetics and phylogeography are on the cusp of a revolution, enabled by the rapid expansion of genomic resources and explosion of new genome sequencing technologies. (blogspot.com)
  • In total, 5,760 randomly selected clones were picked and sequenced. (biomedcentral.com)
  • In this study, we carried out a detailed analysis of four DNA transposons, which were found in the first sequenced twisted-wing parasite, Mengenilla moldrzyki . (biomedcentral.com)
  • Many algorithms have been developed recently that search DNA sequences looking for various types of subsequences [ 1 - 10 ]. (biomedcentral.com)
  • Many of the algorithms can identify repeats without a priori knowledge of the repeat pattern. (biomedcentral.com)
  • However, some factors limit the utility of the human reference genome for genome analysis. (nature.com)
  • Executable code makes extensive use of tandem repeats which show the same kinds of variation normally explained as insertions, deletions, and substitutions in biology. (biologicalinformationnewperspectives.org)
  • In a family with a previously induced labor (second fetus) at 12 weeks gestation due to increased nuchal translucency (3.5 mm), copy number variation sequencing (CNV-seq) revealed a 16.22 Mb deletion of 8p23.3p22. (biomedcentral.com)
  • The Ampelopsis chloroplast genome is 161,090 bp in length, and includes a pair of inverted repeats of 26,394 bp that are separated by small and large single copy regions of 19,036 bp and 89,266 bp, respectively. (frontiersin.org)
  • The eight repeats and the N- and C-terminal regions form the Pumilio homology domain (PUM-HD). (embl-heidelberg.de)
  • The PUM repeat with the N- and C-terminal regions pack together to form a right-handed superhelix that approximates a half doughnut structurally similar to the Armadillo (ARM) repeat proteins, beta-catenin and karyopherin alpha. (embl-heidelberg.de)
  • Consequently, short-read alignment to the human reference genome does not reflect the true configuration of these regions in the sequenced individual 5 , 9 . (nature.com)
  • The unmasked version of the track displays potential CpG islands that exist in repeat regions and would otherwise not be visible in the repeat masked version. (ucsc.edu)