sequencing genomic dna Search Results


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  • 99
    Thermo Fisher sequencing genomic dna
    Sequencing Genomic Dna, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 99/100, based on 284 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Millipore dna sequence
    Dna Sequence, supplied by Millipore, used in various techniques. Bioz Stars score: 99/100, based on 1737 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Pacific Biosciences genomic dna sequencing
    Third-generation <t>PacBio-based</t> <t>DNA</t> sequencing results. (A) Number of reads per given lengths of the chromosomal parts of sequenced junctions, displayed for AAVwt or rAAV, as indicated. (B) Percentage of junctions with breakpoints at indicated distances
    Genomic Dna Sequencing, supplied by Pacific Biosciences, used in various techniques. Bioz Stars score: 91/100, based on 84 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Thermo Fisher 3730xl dna analyzer
    Third-generation <t>PacBio-based</t> <t>DNA</t> sequencing results. (A) Number of reads per given lengths of the chromosomal parts of sequenced junctions, displayed for AAVwt or rAAV, as indicated. (B) Percentage of junctions with breakpoints at indicated distances
    3730xl Dna Analyzer, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 99/100, based on 46651 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Oxford Nanopore genomic dna sequencing kit
    Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), <t>DNA</t> replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of <t>nanopore</t> sequence data.
    Genomic Dna Sequencing Kit, supplied by Oxford Nanopore, used in various techniques. Bioz Stars score: 88/100, based on 93 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Millipore sequencing genomic dna
    Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), <t>DNA</t> replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of <t>nanopore</t> sequence data.
    Sequencing Genomic Dna, supplied by Millipore, used in various techniques. Bioz Stars score: 99/100, based on 81 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Millipore sequencing total genomic dna
    Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), <t>DNA</t> replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of <t>nanopore</t> sequence data.
    Sequencing Total Genomic Dna, supplied by Millipore, used in various techniques. Bioz Stars score: 99/100, based on 86 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Agilent technologies exome sequencing genomic dna
    Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), <t>DNA</t> replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of <t>nanopore</t> sequence data.
    Exome Sequencing Genomic Dna, supplied by Agilent technologies, used in various techniques. Bioz Stars score: 90/100, based on 36 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Thermo Fisher whole genome sequencing genomic dna
    Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), <t>DNA</t> replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of <t>nanopore</t> sequence data.
    Whole Genome Sequencing Genomic Dna, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 99/100, based on 32 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Oxford Nanopore 1d genomic dna sequencing kit sqk lsk108
    Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), <t>DNA</t> replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of <t>nanopore</t> sequence data.
    1d Genomic Dna Sequencing Kit Sqk Lsk108, supplied by Oxford Nanopore, used in various techniques. Bioz Stars score: 90/100, based on 37 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Thermo Fisher genomic dna sequencing
    Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), <t>DNA</t> replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of <t>nanopore</t> sequence data.
    Genomic Dna Sequencing, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 99/100, based on 48 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Oxford Nanopore oxford nanopore gdna sequencing
    A. trifasciata Aggregate Spidroin 2 (AgSp2) schematic, aligned Oxford <t>Nanopore</t> <t>gDNA</t> reads, longest alignable mRNA read, and mapped read coverage. (A) AgSp2 consists of 20,526 bp of coding sequence and ~31,455 bp of intronic sequence, totalling ~51,981bp of genomic sequence (intronic sequence could not be corrected with short readt derived from mRNA). Abbreviations correcpond to regions of the predicted protein: NTD = N-terminal domain; QRR = glutamine -rich region (all regions in green); CTD = C-terminal domain. (B) Individual alignment of four Oxford Nanopore reads to the con-ensus AgSp2 together cover the entirety of the gene. (C) Alignment of a 16.5 kb RNA transcript to the consensus AgSp2. (D) Log read coverage of Illumina RNASeq data generated from aggregate gland tissue mapped to AgSp2.
    Oxford Nanopore Gdna Sequencing, supplied by Oxford Nanopore, used in various techniques. Bioz Stars score: 93/100, based on 15 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Thermo Fisher 3500 genetic analyzer for sequence typing fragment analysis
    A. trifasciata Aggregate Spidroin 2 (AgSp2) schematic, aligned Oxford <t>Nanopore</t> <t>gDNA</t> reads, longest alignable mRNA read, and mapped read coverage. (A) AgSp2 consists of 20,526 bp of coding sequence and ~31,455 bp of intronic sequence, totalling ~51,981bp of genomic sequence (intronic sequence could not be corrected with short readt derived from mRNA). Abbreviations correcpond to regions of the predicted protein: NTD = N-terminal domain; QRR = glutamine -rich region (all regions in green); CTD = C-terminal domain. (B) Individual alignment of four Oxford Nanopore reads to the con-ensus AgSp2 together cover the entirety of the gene. (C) Alignment of a 16.5 kb RNA transcript to the consensus AgSp2. (D) Log read coverage of Illumina RNASeq data generated from aggregate gland tissue mapped to AgSp2.
    3500 Genetic Analyzer For Sequence Typing Fragment Analysis, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 99/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Biotechnology Information genomic dna sequence
    A novel <t>MEF2C</t> mutation associated with congenital heart disease. (A) <t>DNA</t> sequence chromatograms displaying the heterozygous MEF2C mutation and its corresponding wild-type control. The arrow points to the heterozygous nucleotides of T/C in the proband (mutant type) or the homozygous nucleotides of T/T in a control individual (wild type). The rectangle marks the nucleotides comprising codon 38 of MEF2C . (B) Schematic diagram delineating the structural domains of the MEF2C protein and the location of the mutation involved in congenital heart disease. The mutation identified in patients with congenital heart disease is shown above the structural domains. NH2, amino terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD1, transcriptional activation domain 1; TAD2, transcriptional activation domain 2; NLS, nuclear localization signal; COOH, carboxyl terminus. (C) Pedigree structure of the family with congenital heart disease. The family was designated as family A. Family members are recognized by generations and numbers. Square indicates male family member; circle, female member; closed symbol, affected member; open symbol, unaffected member; arrow, proband; “+”, carrier of the heterozygous missense mutation; “-”, non-carrier.
    Genomic Dna Sequence, supplied by Biotechnology Information, used in various techniques. Bioz Stars score: 89/100, based on 96 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Oxford Nanopore genomic dna sequencing kit sqk map006
    A novel <t>MEF2C</t> mutation associated with congenital heart disease. (A) <t>DNA</t> sequence chromatograms displaying the heterozygous MEF2C mutation and its corresponding wild-type control. The arrow points to the heterozygous nucleotides of T/C in the proband (mutant type) or the homozygous nucleotides of T/T in a control individual (wild type). The rectangle marks the nucleotides comprising codon 38 of MEF2C . (B) Schematic diagram delineating the structural domains of the MEF2C protein and the location of the mutation involved in congenital heart disease. The mutation identified in patients with congenital heart disease is shown above the structural domains. NH2, amino terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD1, transcriptional activation domain 1; TAD2, transcriptional activation domain 2; NLS, nuclear localization signal; COOH, carboxyl terminus. (C) Pedigree structure of the family with congenital heart disease. The family was designated as family A. Family members are recognized by generations and numbers. Square indicates male family member; circle, female member; closed symbol, affected member; open symbol, unaffected member; arrow, proband; “+”, carrier of the heterozygous missense mutation; “-”, non-carrier.
    Genomic Dna Sequencing Kit Sqk Map006, supplied by Oxford Nanopore, used in various techniques. Bioz Stars score: 90/100, based on 16 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Gentra Systems dna sequencing genomic dna
    A novel <t>MEF2C</t> mutation associated with congenital heart disease. (A) <t>DNA</t> sequence chromatograms displaying the heterozygous MEF2C mutation and its corresponding wild-type control. The arrow points to the heterozygous nucleotides of T/C in the proband (mutant type) or the homozygous nucleotides of T/T in a control individual (wild type). The rectangle marks the nucleotides comprising codon 38 of MEF2C . (B) Schematic diagram delineating the structural domains of the MEF2C protein and the location of the mutation involved in congenital heart disease. The mutation identified in patients with congenital heart disease is shown above the structural domains. NH2, amino terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD1, transcriptional activation domain 1; TAD2, transcriptional activation domain 2; NLS, nuclear localization signal; COOH, carboxyl terminus. (C) Pedigree structure of the family with congenital heart disease. The family was designated as family A. Family members are recognized by generations and numbers. Square indicates male family member; circle, female member; closed symbol, affected member; open symbol, unaffected member; arrow, proband; “+”, carrier of the heterozygous missense mutation; “-”, non-carrier.
    Dna Sequencing Genomic Dna, supplied by Gentra Systems, used in various techniques. Bioz Stars score: 91/100, based on 22 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Pacific Biosciences smrt sequencing genomic dna
    A novel <t>MEF2C</t> mutation associated with congenital heart disease. (A) <t>DNA</t> sequence chromatograms displaying the heterozygous MEF2C mutation and its corresponding wild-type control. The arrow points to the heterozygous nucleotides of T/C in the proband (mutant type) or the homozygous nucleotides of T/T in a control individual (wild type). The rectangle marks the nucleotides comprising codon 38 of MEF2C . (B) Schematic diagram delineating the structural domains of the MEF2C protein and the location of the mutation involved in congenital heart disease. The mutation identified in patients with congenital heart disease is shown above the structural domains. NH2, amino terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD1, transcriptional activation domain 1; TAD2, transcriptional activation domain 2; NLS, nuclear localization signal; COOH, carboxyl terminus. (C) Pedigree structure of the family with congenital heart disease. The family was designated as family A. Family members are recognized by generations and numbers. Square indicates male family member; circle, female member; closed symbol, affected member; open symbol, unaffected member; arrow, proband; “+”, carrier of the heterozygous missense mutation; “-”, non-carrier.
    Smrt Sequencing Genomic Dna, supplied by Pacific Biosciences, used in various techniques. Bioz Stars score: 88/100, based on 23 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Oxford Nanopore genomic dna sequencing kit sqk map 006
    A novel <t>MEF2C</t> mutation associated with congenital heart disease. (A) <t>DNA</t> sequence chromatograms displaying the heterozygous MEF2C mutation and its corresponding wild-type control. The arrow points to the heterozygous nucleotides of T/C in the proband (mutant type) or the homozygous nucleotides of T/T in a control individual (wild type). The rectangle marks the nucleotides comprising codon 38 of MEF2C . (B) Schematic diagram delineating the structural domains of the MEF2C protein and the location of the mutation involved in congenital heart disease. The mutation identified in patients with congenital heart disease is shown above the structural domains. NH2, amino terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD1, transcriptional activation domain 1; TAD2, transcriptional activation domain 2; NLS, nuclear localization signal; COOH, carboxyl terminus. (C) Pedigree structure of the family with congenital heart disease. The family was designated as family A. Family members are recognized by generations and numbers. Square indicates male family member; circle, female member; closed symbol, affected member; open symbol, unaffected member; arrow, proband; “+”, carrier of the heterozygous missense mutation; “-”, non-carrier.
    Genomic Dna Sequencing Kit Sqk Map 006, supplied by Oxford Nanopore, used in various techniques. Bioz Stars score: 88/100, based on 9 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Thermo Fisher jurkat genomic dna
    A novel <t>MEF2C</t> mutation associated with congenital heart disease. (A) <t>DNA</t> sequence chromatograms displaying the heterozygous MEF2C mutation and its corresponding wild-type control. The arrow points to the heterozygous nucleotides of T/C in the proband (mutant type) or the homozygous nucleotides of T/T in a control individual (wild type). The rectangle marks the nucleotides comprising codon 38 of MEF2C . (B) Schematic diagram delineating the structural domains of the MEF2C protein and the location of the mutation involved in congenital heart disease. The mutation identified in patients with congenital heart disease is shown above the structural domains. NH2, amino terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD1, transcriptional activation domain 1; TAD2, transcriptional activation domain 2; NLS, nuclear localization signal; COOH, carboxyl terminus. (C) Pedigree structure of the family with congenital heart disease. The family was designated as family A. Family members are recognized by generations and numbers. Square indicates male family member; circle, female member; closed symbol, affected member; open symbol, unaffected member; arrow, proband; “+”, carrier of the heterozygous missense mutation; “-”, non-carrier.
    Jurkat Genomic Dna, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 99/100, based on 18 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Image Search Results


    Third-generation PacBio-based DNA sequencing results. (A) Number of reads per given lengths of the chromosomal parts of sequenced junctions, displayed for AAVwt or rAAV, as indicated. (B) Percentage of junctions with breakpoints at indicated distances

    Journal: Journal of Virology

    Article Title: Adeno-Associated Virus Type 2 Wild-Type and Vector-Mediated Genomic Integration Profiles of Human Diploid Fibroblasts Analyzed by Third-Generation PacBio DNA Sequencing

    doi: 10.1128/JVI.01356-14

    Figure Lengend Snippet: Third-generation PacBio-based DNA sequencing results. (A) Number of reads per given lengths of the chromosomal parts of sequenced junctions, displayed for AAVwt or rAAV, as indicated. (B) Percentage of junctions with breakpoints at indicated distances

    Article Snippet: We present here integration profiles in diploid human fibroblasts infected side by side with AAV2wt and rAAV2 vectors, analyzed by third-generation, PacBio-based genomic DNA sequencing.

    Techniques: DNA Sequencing

    Library preparation for third-generation PacBio sequencing of AAV integration sites. (A) Genomic DNA of AAVwt- or rAAV-infected human fibroblast (MRC-5) was digested by endonucleases, as indicated by vertical arrows. Integrated AAV genomes are represented

    Journal: Journal of Virology

    Article Title: Adeno-Associated Virus Type 2 Wild-Type and Vector-Mediated Genomic Integration Profiles of Human Diploid Fibroblasts Analyzed by Third-Generation PacBio DNA Sequencing

    doi: 10.1128/JVI.01356-14

    Figure Lengend Snippet: Library preparation for third-generation PacBio sequencing of AAV integration sites. (A) Genomic DNA of AAVwt- or rAAV-infected human fibroblast (MRC-5) was digested by endonucleases, as indicated by vertical arrows. Integrated AAV genomes are represented

    Article Snippet: We present here integration profiles in diploid human fibroblasts infected side by side with AAV2wt and rAAV2 vectors, analyzed by third-generation, PacBio-based genomic DNA sequencing.

    Techniques: Sequencing, Infection

    Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), DNA replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of nanopore sequence data.

    Journal: Nature Communications

    Article Title: Scaffolding and completing genome assemblies in real-time with nanopore sequencing

    doi: 10.1038/ncomms14515

    Figure Lengend Snippet: Structure of a pathogenic island from K. pneumoniae ATCC BAA-2146. The island harbors three antibiotic resistance genes strep , sul1 and ebr , flanked by mobility genes integrase ( int ), inverstase ( hin ), DNA replication ( dnaC ) and IS (IS26 and IS6100). The island was fragmented into 10 contigs in the Illumina assembly, and was completely resolved with 65 Mb out of the total of 185 Mb of nanopore sequence data.

    Article Snippet: MinION sequencing Library preparation was performed using the Genomic DNA Sequencing kit (Oxford Nanopore), according to the manufacturer's instructions.

    Techniques: Sequencing

    A. trifasciata Aggregate Spidroin 2 (AgSp2) schematic, aligned Oxford Nanopore gDNA reads, longest alignable mRNA read, and mapped read coverage. (A) AgSp2 consists of 20,526 bp of coding sequence and ~31,455 bp of intronic sequence, totalling ~51,981bp of genomic sequence (intronic sequence could not be corrected with short readt derived from mRNA). Abbreviations correcpond to regions of the predicted protein: NTD = N-terminal domain; QRR = glutamine -rich region (all regions in green); CTD = C-terminal domain. (B) Individual alignment of four Oxford Nanopore reads to the con-ensus AgSp2 together cover the entirety of the gene. (C) Alignment of a 16.5 kb RNA transcript to the consensus AgSp2. (D) Log read coverage of Illumina RNASeq data generated from aggregate gland tissue mapped to AgSp2.

    Journal: bioRxiv

    Article Title: Towards Spider Glue: Long-read scaffolding for extreme length and repetitious silk family genes AgSp1 and AgSp2 with insights into functional adaptation

    doi: 10.1101/492025

    Figure Lengend Snippet: A. trifasciata Aggregate Spidroin 2 (AgSp2) schematic, aligned Oxford Nanopore gDNA reads, longest alignable mRNA read, and mapped read coverage. (A) AgSp2 consists of 20,526 bp of coding sequence and ~31,455 bp of intronic sequence, totalling ~51,981bp of genomic sequence (intronic sequence could not be corrected with short readt derived from mRNA). Abbreviations correcpond to regions of the predicted protein: NTD = N-terminal domain; QRR = glutamine -rich region (all regions in green); CTD = C-terminal domain. (B) Individual alignment of four Oxford Nanopore reads to the con-ensus AgSp2 together cover the entirety of the gene. (C) Alignment of a 16.5 kb RNA transcript to the consensus AgSp2. (D) Log read coverage of Illumina RNASeq data generated from aggregate gland tissue mapped to AgSp2.

    Article Snippet: Oxford Nanopore gDNA Sequencing Two juvenile A. trifasciata were collected from Schooley Mill park on July 23, 2018 and kept overnight in containers.

    Techniques: Sequencing, Derivative Assay, Generated

    A. trifasciata Aggregate Spidroin 1 (AgSp1) schematic, aligned Oxford Nanopore gDNA reads, longest alignable mRNA read, and mapped read coverage. (A) AgSp1 consists of 42,270 bp of coding sequence and ~6,690 bp of intronic sequence, totalling ~48,960 bp of genomic sequence (intronic sequence could not be corrected with short reads derived from mRNA). Abbreviations correspond to regions of the predicted protein: NTD = N-terminal domain; NTR = N-terminal repeats; NTT = N-terminal transition; MRT = mid-rep eat transition; CTT = C-terminal transition, CTD = C-terminal domain. (B) Individual alignment of four Oxford Nanopore reads to the consensus AgSp1 together cover the entirety of the gene. (C) Alignment of a 16.4 kb mRNA transcript to the consensus AgSp1. (D) Log read coverage of Illumina RNAseq data generated from aggregate gland tissue mapped to AgSp1.

    Journal: bioRxiv

    Article Title: Towards Spider Glue: Long-read scaffolding for extreme length and repetitious silk family genes AgSp1 and AgSp2 with insights into functional adaptation

    doi: 10.1101/492025

    Figure Lengend Snippet: A. trifasciata Aggregate Spidroin 1 (AgSp1) schematic, aligned Oxford Nanopore gDNA reads, longest alignable mRNA read, and mapped read coverage. (A) AgSp1 consists of 42,270 bp of coding sequence and ~6,690 bp of intronic sequence, totalling ~48,960 bp of genomic sequence (intronic sequence could not be corrected with short reads derived from mRNA). Abbreviations correspond to regions of the predicted protein: NTD = N-terminal domain; NTR = N-terminal repeats; NTT = N-terminal transition; MRT = mid-rep eat transition; CTT = C-terminal transition, CTD = C-terminal domain. (B) Individual alignment of four Oxford Nanopore reads to the consensus AgSp1 together cover the entirety of the gene. (C) Alignment of a 16.4 kb mRNA transcript to the consensus AgSp1. (D) Log read coverage of Illumina RNAseq data generated from aggregate gland tissue mapped to AgSp1.

    Article Snippet: Oxford Nanopore gDNA Sequencing Two juvenile A. trifasciata were collected from Schooley Mill park on July 23, 2018 and kept overnight in containers.

    Techniques: Sequencing, Derivative Assay, Generated

    A novel MEF2C mutation associated with congenital heart disease. (A) DNA sequence chromatograms displaying the heterozygous MEF2C mutation and its corresponding wild-type control. The arrow points to the heterozygous nucleotides of T/C in the proband (mutant type) or the homozygous nucleotides of T/T in a control individual (wild type). The rectangle marks the nucleotides comprising codon 38 of MEF2C . (B) Schematic diagram delineating the structural domains of the MEF2C protein and the location of the mutation involved in congenital heart disease. The mutation identified in patients with congenital heart disease is shown above the structural domains. NH2, amino terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD1, transcriptional activation domain 1; TAD2, transcriptional activation domain 2; NLS, nuclear localization signal; COOH, carboxyl terminus. (C) Pedigree structure of the family with congenital heart disease. The family was designated as family A. Family members are recognized by generations and numbers. Square indicates male family member; circle, female member; closed symbol, affected member; open symbol, unaffected member; arrow, proband; “+”, carrier of the heterozygous missense mutation; “-”, non-carrier.

    Journal: International Journal of Medical Sciences

    Article Title: MEF2C loss-of-function mutation contributes to congenital heart defects

    doi: 10.7150/ijms.21353

    Figure Lengend Snippet: A novel MEF2C mutation associated with congenital heart disease. (A) DNA sequence chromatograms displaying the heterozygous MEF2C mutation and its corresponding wild-type control. The arrow points to the heterozygous nucleotides of T/C in the proband (mutant type) or the homozygous nucleotides of T/T in a control individual (wild type). The rectangle marks the nucleotides comprising codon 38 of MEF2C . (B) Schematic diagram delineating the structural domains of the MEF2C protein and the location of the mutation involved in congenital heart disease. The mutation identified in patients with congenital heart disease is shown above the structural domains. NH2, amino terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD1, transcriptional activation domain 1; TAD2, transcriptional activation domain 2; NLS, nuclear localization signal; COOH, carboxyl terminus. (C) Pedigree structure of the family with congenital heart disease. The family was designated as family A. Family members are recognized by generations and numbers. Square indicates male family member; circle, female member; closed symbol, affected member; open symbol, unaffected member; arrow, proband; “+”, carrier of the heterozygous missense mutation; “-”, non-carrier.

    Article Snippet: The referential genomic DNA sequence of the human MEF2C gene (accession no. NC_000005.10) was derived from the Nucleotide database at the National Center for Biotechnology Information ( https://www.ncbi.nlm.nih.gov/nuccore/NC_000005.10?from=88718241 & to=88904105 & report=genbank & strand=true ).

    Techniques: Mutagenesis, Sequencing, Activation Assay