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ncbi human genome build 36  (Biotechnology Information)

 
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    Biotechnology Information ncbi human genome build 36
    Ncbi Human Genome Build 36, supplied by Biotechnology Information, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Segregation of DPP6 in family 1270. Segregation analysis of three rare variants identified in WGS data in intron 1 of DPP6 <t>(hg18</t> variant 1 g.153577081 A>G, variant 2 g.153737600 C>T; rs567013292 and variant 3 g.153744958 G>T) delimited by the STR markers D7S798 and D7S2546. Black bars represent the disease haplotype of patients. Numbers within each diamond are unaffected individuals, non-carriers of the disease haplotype included in the genotyping. Arabic numbers above the symbols denote individuals, Arabic numbers below the symbols denote age at onset for patients or either age at last examination or age at death for unaffected individuals. The arrow identifies the proband in the family. WGS data were generated for patients III-12, III-38, III-41, and III-48 from three different sib ships of the pedigree. Direct long-read WGS on Oxford Nanopore PromethION sequencer was performed for III-48. Directional genomic hybridization was performed in cell lines derived from patient III-48 (Fig. ) and from the non-carriers III-23 and III-39
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    Segregation of DPP6 in family 1270. Segregation analysis of three rare variants identified in WGS data in intron 1 of DPP6 <t>(hg18</t> variant 1 g.153577081 A>G, variant 2 g.153737600 C>T; rs567013292 and variant 3 g.153744958 G>T) delimited by the STR markers D7S798 and D7S2546. Black bars represent the disease haplotype of patients. Numbers within each diamond are unaffected individuals, non-carriers of the disease haplotype included in the genotyping. Arabic numbers above the symbols denote individuals, Arabic numbers below the symbols denote age at onset for patients or either age at last examination or age at death for unaffected individuals. The arrow identifies the proband in the family. WGS data were generated for patients III-12, III-38, III-41, and III-48 from three different sib ships of the pedigree. Direct long-read WGS on Oxford Nanopore PromethION sequencer was performed for III-48. Directional genomic hybridization was performed in cell lines derived from patient III-48 (Fig. ) and from the non-carriers III-23 and III-39
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    Regional association plots at the most significant loci associated with hyperuricemia. The plots of genetic loci on chromosome 4 are shown as they were created using LocusZoom. Each point represents a SNP plotted with their −log 10 ( P ) values as a function of genomic position <t>(NCBI</t> Build 36). The lead SNP (rs2054576) is represented by purple diamond. The color coding of all other SNPs (circles) indicates LD with rs2054576 (red r 2 ≥ 0.8, gold 0.6 ≤ r 2 < 0.8, green 0.4 ≤ r 2 < 0.6, cyan 0.2 ≤ r 2 < 0.4, blue r 2 < 0.2, grey r 2 unknown). SNP = single nucleotide polymorphism, NCBI = National Center for Biotechnology Information, LD = linkage disequilibrium.
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    Regional association plots at the most significant loci associated with hyperuricemia. The plots of genetic loci on chromosome 4 are shown as they were created using LocusZoom. Each point represents a SNP plotted with their −log 10 ( P ) values as a function of genomic position <t>(NCBI</t> Build 36). The lead SNP (rs2054576) is represented by purple diamond. The color coding of all other SNPs (circles) indicates LD with rs2054576 (red r 2 ≥ 0.8, gold 0.6 ≤ r 2 < 0.8, green 0.4 ≤ r 2 < 0.6, cyan 0.2 ≤ r 2 < 0.4, blue r 2 < 0.2, grey r 2 unknown). SNP = single nucleotide polymorphism, NCBI = National Center for Biotechnology Information, LD = linkage disequilibrium.
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    Regional association plots at the most significant loci associated with hyperuricemia. The plots of genetic loci on chromosome 4 are shown as they were created using LocusZoom. Each point represents a SNP plotted with their −log 10 ( P ) values as a function of genomic position <t>(NCBI</t> Build 36). The lead SNP (rs2054576) is represented by purple diamond. The color coding of all other SNPs (circles) indicates LD with rs2054576 (red r 2 ≥ 0.8, gold 0.6 ≤ r 2 < 0.8, green 0.4 ≤ r 2 < 0.6, cyan 0.2 ≤ r 2 < 0.4, blue r 2 < 0.2, grey r 2 unknown). SNP = single nucleotide polymorphism, NCBI = National Center for Biotechnology Information, LD = linkage disequilibrium.
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    Regional association plots at the most significant loci associated with hyperuricemia. The plots of genetic loci on chromosome 4 are shown as they were created using LocusZoom. Each point represents a SNP plotted with their −log 10 ( P ) values as a function of genomic position <t>(NCBI</t> Build 36). The lead SNP (rs2054576) is represented by purple diamond. The color coding of all other SNPs (circles) indicates LD with rs2054576 (red r 2 ≥ 0.8, gold 0.6 ≤ r 2 < 0.8, green 0.4 ≤ r 2 < 0.6, cyan 0.2 ≤ r 2 < 0.4, blue r 2 < 0.2, grey r 2 unknown). SNP = single nucleotide polymorphism, NCBI = National Center for Biotechnology Information, LD = linkage disequilibrium.
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    Segregation of DPP6 in family 1270. Segregation analysis of three rare variants identified in WGS data in intron 1 of DPP6 (hg18 variant 1 g.153577081 A>G, variant 2 g.153737600 C>T; rs567013292 and variant 3 g.153744958 G>T) delimited by the STR markers D7S798 and D7S2546. Black bars represent the disease haplotype of patients. Numbers within each diamond are unaffected individuals, non-carriers of the disease haplotype included in the genotyping. Arabic numbers above the symbols denote individuals, Arabic numbers below the symbols denote age at onset for patients or either age at last examination or age at death for unaffected individuals. The arrow identifies the proband in the family. WGS data were generated for patients III-12, III-38, III-41, and III-48 from three different sib ships of the pedigree. Direct long-read WGS on Oxford Nanopore PromethION sequencer was performed for III-48. Directional genomic hybridization was performed in cell lines derived from patient III-48 (Fig. ) and from the non-carriers III-23 and III-39

    Journal: Acta Neuropathologica

    Article Title: Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability

    doi: 10.1007/s00401-019-01976-3

    Figure Lengend Snippet: Segregation of DPP6 in family 1270. Segregation analysis of three rare variants identified in WGS data in intron 1 of DPP6 (hg18 variant 1 g.153577081 A>G, variant 2 g.153737600 C>T; rs567013292 and variant 3 g.153744958 G>T) delimited by the STR markers D7S798 and D7S2546. Black bars represent the disease haplotype of patients. Numbers within each diamond are unaffected individuals, non-carriers of the disease haplotype included in the genotyping. Arabic numbers above the symbols denote individuals, Arabic numbers below the symbols denote age at onset for patients or either age at last examination or age at death for unaffected individuals. The arrow identifies the proband in the family. WGS data were generated for patients III-12, III-38, III-41, and III-48 from three different sib ships of the pedigree. Direct long-read WGS on Oxford Nanopore PromethION sequencer was performed for III-48. Directional genomic hybridization was performed in cell lines derived from patient III-48 (Fig. ) and from the non-carriers III-23 and III-39

    Article Snippet: Raw sequencing reads were aligned to the reference genome (National Center for Biotechnology Information (NCBI) build 36 (hg18).

    Techniques: Variant Assay, Generated, Hybridization, Derivative Assay

    Regional association plots at the most significant loci associated with hyperuricemia. The plots of genetic loci on chromosome 4 are shown as they were created using LocusZoom. Each point represents a SNP plotted with their −log 10 ( P ) values as a function of genomic position (NCBI Build 36). The lead SNP (rs2054576) is represented by purple diamond. The color coding of all other SNPs (circles) indicates LD with rs2054576 (red r 2 ≥ 0.8, gold 0.6 ≤ r 2 < 0.8, green 0.4 ≤ r 2 < 0.6, cyan 0.2 ≤ r 2 < 0.4, blue r 2 < 0.2, grey r 2 unknown). SNP = single nucleotide polymorphism, NCBI = National Center for Biotechnology Information, LD = linkage disequilibrium.

    Journal: Journal of Korean Medical Science

    Article Title: ABCG2 Polymorphism Is Associated with Hyperuricemia in a Study of a Community-Based Korean Cohort

    doi: 10.3346/jkms.2017.32.9.1451

    Figure Lengend Snippet: Regional association plots at the most significant loci associated with hyperuricemia. The plots of genetic loci on chromosome 4 are shown as they were created using LocusZoom. Each point represents a SNP plotted with their −log 10 ( P ) values as a function of genomic position (NCBI Build 36). The lead SNP (rs2054576) is represented by purple diamond. The color coding of all other SNPs (circles) indicates LD with rs2054576 (red r 2 ≥ 0.8, gold 0.6 ≤ r 2 < 0.8, green 0.4 ≤ r 2 < 0.6, cyan 0.2 ≤ r 2 < 0.4, blue r 2 < 0.2, grey r 2 unknown). SNP = single nucleotide polymorphism, NCBI = National Center for Biotechnology Information, LD = linkage disequilibrium.

    Article Snippet: The data was given position on National Center for Biotechnology Information (NCBI) Build 36.

    Techniques: