full‐length cyp2d6 sequencing Search Results


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  • 99
    Thermo Fisher sybr green dye
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    Pacific Biosciences amplicon pacbio sequencing
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    Thermo Fisher abi prism 7300 sequence detection system
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    Pacific Biosciences long amplicon sequencing
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    Pacific Biosciences smrt sequencing technique
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    Pacific Biosciences cyp2d6
    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The <t>CYP2D6</t> gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
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    Pacific Biosciences multiplex pcr primer guidelines
    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The <t>CYP2D6</t> gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
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    Pacific Biosciences pacific biosciences rsii
    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The <t>CYP2D6</t> gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
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    Thermo Fisher taqman probes
    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The <t>CYP2D6</t> gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
    Taqman Probes, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 95/100, based on 59296 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Qiagen qiaamp dna mini kit
    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The <t>CYP2D6</t> gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
    Qiaamp Dna Mini Kit, supplied by Qiagen, used in various techniques. Bioz Stars score: 99/100, based on 48891 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Pacific Biosciences pacbio smrt cell
    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The <t>CYP2D6</t> gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
    Pacbio Smrt Cell, supplied by Pacific Biosciences, used in various techniques. Bioz Stars score: 88/100, based on 57 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Thermo Fisher exosap it
    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The <t>CYP2D6</t> gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
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    91
    Pacific Biosciences unique barcodes
    Direct barcoding results. Direct barcoding results for the technical replicate with different <t>barcodes.</t> A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The CYP2D6 gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
    Unique Barcodes, supplied by Pacific Biosciences, used in various techniques. Bioz Stars score: 91/100, based on 9 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Technelysium version 2 6 5
    Direct barcoding results. Direct barcoding results for the technical replicate with different <t>barcodes.</t> A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The CYP2D6 gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
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    Pacific Biosciences pacbio rsii
    Direct barcoding results. Direct barcoding results for the technical replicate with different <t>barcodes.</t> A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The CYP2D6 gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.
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    Thermo Fisher gene exp cyp2d6 hs02576167 m1
    Identification of genetic variants of <t>CYP2D6</t> with mutations in putative targeting signals. (A and B) Total RNA was extracted from human liver samples and the first 600 nucleotides of the coding region were amplified by RT-PCR. The amplified DNA was cloned and sequenced. (A) Schematic representations of point mutations identified in the human liver samples. (B) Schematic representations of splice variants identified. The deleted or skipped exon regions are shown as hatched boxes.
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    Roche unphased diplotypes
    Identification of genetic variants of <t>CYP2D6</t> with mutations in putative targeting signals. (A and B) Total RNA was extracted from human liver samples and the first 600 nucleotides of the coding region were amplified by RT-PCR. The amplified DNA was cloned and sequenced. (A) Schematic representations of point mutations identified in the human liver samples. (B) Schematic representations of splice variants identified. The deleted or skipped exon regions are shown as hatched boxes.
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    Thermo Fisher cdna archive kit
    Identification of genetic variants of <t>CYP2D6</t> with mutations in putative targeting signals. (A and B) Total RNA was extracted from human liver samples and the first 600 nucleotides of the coding region were amplified by RT-PCR. The amplified DNA was cloned and sequenced. (A) Schematic representations of point mutations identified in the human liver samples. (B) Schematic representations of splice variants identified. The deleted or skipped exon regions are shown as hatched boxes.
    Cdna Archive Kit, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 92/100, based on 1141 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Thermo Fisher human livers
    Identification of genetic variants of <t>CYP2D6</t> with mutations in putative targeting signals. (A and B) Total RNA was extracted from human liver samples and the first 600 nucleotides of the coding region were amplified by RT-PCR. The amplified DNA was cloned and sequenced. (A) Schematic representations of point mutations identified in the human liver samples. (B) Schematic representations of splice variants identified. The deleted or skipped exon regions are shown as hatched boxes.
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    Thermo Fisher taqman gene expression assay
    Identification of genetic variants of <t>CYP2D6</t> with mutations in putative targeting signals. (A and B) Total RNA was extracted from human liver samples and the first 600 nucleotides of the coding region were amplified by RT-PCR. The amplified DNA was cloned and sequenced. (A) Schematic representations of point mutations identified in the human liver samples. (B) Schematic representations of splice variants identified. The deleted or skipped exon regions are shown as hatched boxes.
    Taqman Gene Expression Assay, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 99/100, based on 12710 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Image Search Results


    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The CYP2D6 gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.

    Journal: Human Mutation

    Article Title: Flexible and Scalable Full‐Length CYP2D6 Long Amplicon PacBio Sequencing

    doi: 10.1002/humu.23166

    Figure Lengend Snippet: Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The CYP2D6 gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.

    Article Snippet: The technical replicate was in full agreement with haplogroup 2 for barcode 1 except for an one nucleotide length difference in a 22‐bp T‐homopolymer located in the upstream region of CYP2D6 (22:g.42132029delT) for haplogroup 2.

    Techniques: Sequencing, Variant Assay

    Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The CYP2D6 gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.

    Journal: Human Mutation

    Article Title: Flexible and Scalable Full‐Length CYP2D6 Long Amplicon PacBio Sequencing

    doi: 10.1002/humu.23166

    Figure Lengend Snippet: Direct barcoding results. Direct barcoding results for the technical replicate with different barcodes. A : UCSC browser screenshot illustrating the detected variants (red lines) of the two fully‐phased haplogroup sequences for each sample barcode relative to the GRCh38 reference. The CYP2D6 gene is located on the negative strand. Exon numbers are indicated in white based on the NM_000106.5 transcript sequence. For the haplogroup 2 sequences, the variants determining the CYP2D6 * 35 call are indicated. B : Identity and distribution of all 27 variants across the haplogroup sequences. Order in this table (top to bottom) is identical to those in Figure 2A (left to right). Variants in bold determine the CYP2D6 * 35 haplotype; * indicates that the variant was included on the Roche AmpliChip CYP450 test; # indicates that the variant was included in PharmGKB (February 4, 2016); and “HG” and “i” denote haplogroup and index, respectively.

    Article Snippet: Initial analysis of one individual was performed using two technical replicate libraries with unique barcodes, prepared and sequenced together on one PacBio SMRT cell.

    Techniques: Sequencing, Variant Assay

    Barcoding schemes. Direct versus two‐step sample barcoding. A : In the direct barcoding scheme the sample specific barcodes, indicated by the blue and red for patients 1 and 2, respectively, are attached to the gene‐specific sequences (black arrows) and are introduced in a single PCR reaction. B : For the two‐step procedure for each individual, the region of interest is first amplified with a pair of gene‐specific primers with M13 forward (green) and reverse (purple) sequence tails. A symmetrical sample barcode, indicated by blue and red for patients 1 and 2, respectively, is introduced in a second PCR using a set of M13 barcode primers. A 5' padding sequence (black) is present on the index primers for both the direct and two‐step barcoding schemes to give all fragment identical end sequences to avoid ligation biases during the SMRT bell library preparation.

    Journal: Human Mutation

    Article Title: Flexible and Scalable Full‐Length CYP2D6 Long Amplicon PacBio Sequencing

    doi: 10.1002/humu.23166

    Figure Lengend Snippet: Barcoding schemes. Direct versus two‐step sample barcoding. A : In the direct barcoding scheme the sample specific barcodes, indicated by the blue and red for patients 1 and 2, respectively, are attached to the gene‐specific sequences (black arrows) and are introduced in a single PCR reaction. B : For the two‐step procedure for each individual, the region of interest is first amplified with a pair of gene‐specific primers with M13 forward (green) and reverse (purple) sequence tails. A symmetrical sample barcode, indicated by blue and red for patients 1 and 2, respectively, is introduced in a second PCR using a set of M13 barcode primers. A 5' padding sequence (black) is present on the index primers for both the direct and two‐step barcoding schemes to give all fragment identical end sequences to avoid ligation biases during the SMRT bell library preparation.

    Article Snippet: Initial analysis of one individual was performed using two technical replicate libraries with unique barcodes, prepared and sequenced together on one PacBio SMRT cell.

    Techniques: Polymerase Chain Reaction, Amplification, Sequencing, Ligation

    Identification of genetic variants of CYP2D6 with mutations in putative targeting signals. (A and B) Total RNA was extracted from human liver samples and the first 600 nucleotides of the coding region were amplified by RT-PCR. The amplified DNA was cloned and sequenced. (A) Schematic representations of point mutations identified in the human liver samples. (B) Schematic representations of splice variants identified. The deleted or skipped exon regions are shown as hatched boxes.

    Journal: Molecular genetics and metabolism

    Article Title: Identification of Genetic Variants of Human Cytochrome P450 2D6 with Impaired Mitochondrial Targeting

    doi: 10.1016/j.ymgme.2009.08.009

    Figure Lengend Snippet: Identification of genetic variants of CYP2D6 with mutations in putative targeting signals. (A and B) Total RNA was extracted from human liver samples and the first 600 nucleotides of the coding region were amplified by RT-PCR. The amplified DNA was cloned and sequenced. (A) Schematic representations of point mutations identified in the human liver samples. (B) Schematic representations of splice variants identified. The deleted or skipped exon regions are shown as hatched boxes.

    Article Snippet: A TaqMan gene expression assay that was designed to detect just the exon 3-skipped splice variant form (Hs02576167_m1, Applied Biosystems) was used.

    Techniques: Amplification, Reverse Transcription Polymerase Chain Reaction, Clone Assay