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13406 results for ""pdc"+"heritage+language"+census+study"

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Study type

affected sib pairs aggregate genomic data amplicon sequencing atac sequencing cancer genomics case set case-cohort case-control clinical cohort clinical diagnostic testing clinical genetic testing clinical trial cohort collection community control set controlled trial copy number variation (cnv) cross-sectional double-blind electronic medical records epigenetics eqtl exome sequencing extended pedigrees family family linkage forensic or paleo-genomics full transcriptome sequencing gene regulation study genotype genotype/expression genotype/expression array gwas individual-level genomic data interventional longitudinal longitudinal cohort marker discovery mendelian meta-analysis metagenomics metastasis methods development mixed multicenter multiplex families nested case-control nuclear families observational other parent-offspring parent-offspring trios partial factorial randomized phase iii placebo-controlled pooled clone sequencing population population genomics population-based control set probands prospective quantitative cross-sectional randomized randomized controlled clinical trial reference set resequencing rna sequencing rnaseq sequencing sibling cohort single cell analysis single cell rna sequence single cell rna sequencing single patient snp array analysis stem cell lines synthetic genomics targeted capture sequence transcriptome analysis transcriptome sequencing transcriptome sequencing (tumor only) tumor tumor vs. matched-normal twin virus capture sequencing whole genome sequencing whole-genome bisulfite sequencing xenograft

Dataset types

amplicon sequencing chip-seq chromatin accessibility profiling by high-throughput sequencing exome sequencing genomic variant calling genotyping by array histone modification profiling by high-throughput sequencing methylation binding domain sequencing methylation profiling by high-throughput sequencing phenotype information study summary information transcriptome profiling by array transcriptome profiling by high-throughput sequencing whole genome sequencing

Dataset technologies

ab 3730xl genetic analyzer ab 5500xl genetic analyzer ab solid 4 system affy mirna 3.0 array affymetrics axiom snp array 2.0 affymetrix affymetrix 6.0 array affymetrix 6.0; cytoscan affymetrix axiom 850k pmda array affymetrix axiom genome-wide asi 1 array affymetrix axiom genome-wide human origins array affymetrix biobank array affymetrix oncoscan ffpe express affymetrix, thermo fisher scientific agilent human mirna microarray axiom uk biobank array bgiseq-500 clariomâ„¢ d human assay complete genomics coreexome illumina snp chip array dnbseq-g400 dnbseq-t7 epic beadchip hiseq x five hiseq x ten human cardio metabochip human clariom d arrays human genome u219 array plate humanht-12 illumina (epic array) illumina 450k illumina cardio-metabochip illumina genome analyzer illumina genome analyzer ii illumina genome analyzer iix illumina global screening array illumina gsa v1.0 illumina hiseq 1000 illumina hiseq 1500 illumina hiseq 2000 illumina hiseq 2500 illumina hiseq 3000 illumina hiseq 4000 illumina hiseq x illumina human methylation epic beadchip illumina human omni1-quad beadchip. illumina humancoreexome beadchip array illumina humancoreexome-12v1-1_a illumina humancoreexome-24v1-0 illumina humancoreexome-24v1-1 illumina humanmethylation450 illumina humanomni1-quad_v1-0 illumina humanomni1-quad_v1-0, humanomniexpress-12-v1-0, humanomniexpress-24-v1-1, humanomni25-8v1-2_a1 illumina humanomni2.5 illumina humanomni2.5-8 illumina humanomni5-quad and exome sequencing illumina humanomniexpress-12 illumina humanomniexpress-12-v1-0 illumina humanomniexpress-24-v1-1 illumina humanwg-6 illumina humanwg-6 version 3 or illumina humanht-12 expression bead chip, combined on identical nucleotide universal identifiers. illumina infinium epic illumina infinium h3africa (v2) with custom add-ons illumina infinium immunochip illumina infiniumomniexpressexome-8 illumina mega array illumina methylationepic v2.0 illumina miniseq illumina miseq illumina novaseq 6000 illumina novaseq x illumina novaseq x plus illumina omni 2.5 illumina omni 2.5m illumina oncoarray illumina sangerddd_omniexplusv1_15019773 infinium gsa infinium methylationepic array ion genestudio s5 ion torrent pgm ion torrent proton ion torrent s5 xl llumina 2.5-8 minion nextseq 2000 nextseq 500 nextseq 550 nimblegen hg18 cgh 385k omniexpress omniexpress-24 v1.1 pacbio rs ii promethion qexactive plus revio sanger sequencing sequel sequel ii sequel iie sequenom massarray (agena bioscience) somascan 1.3k proteomic assay uk biobank axiomâ„¢ array unspecified

Phenotypes

CHEBI:33699 CL:0000037 CL:0000084 CL:0000094 CL:0000235 CL:0000576 CL:0000837 CL:0000863 CL:0000890 CL:0002057 EFO:0000094 EFO:0000209 EFO:0000211 EFO:0000220 EFO:0000222 EFO:0000272 EFO:0000275 EFO:0000280 EFO:0000285 EFO:0000309 EFO:0000322 EFO:0000330 EFO:0000339 EFO:0000349 EFO:0000403 EFO:0000478 EFO:0000519 EFO:0000565 EFO:0000574 EFO:0000586 EFO:0000609 EFO:0000632 EFO:0000637 EFO:0000693 EFO:0000980 EFO:0001461 EFO:0001663 EFO:0001905 EFO:0002001 EFO:0002002 EFO:0002422 EFO:0002499 EFO:0002508 EFO:0002539 EFO:0002759 EFO:0002939 EFO:0002966 EFO:0003025 EFO:0003094 EFO:0003885 EFO:0003897 EFO:0003940 EFO:0004281 EFO:0005023 EFO:0005543 EFO:0005699 EFO:0005704 EFO:0005705 EFO:0005706 EFO:0005707 EFO:0005708 EFO:0005709 EFO:0005710 EFO:0005711 EFO:0005712 EFO:0005740 EFO:0005922 EFO:0006545 EFO:0009119 EFO:0009121 EFO:0009443 EFO:0010064 EFO:1000028 EFO:1000042 EFO:1000068 EFO:1000069 EFO:1000177 EFO:1000180 EFO:1000231 EFO:1000238 EFO:1000327 EFO:1000490 EFO:1001480 EFO:1001514 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Duo

0000001 0000004 0000005 0000006 0000007 0000011 0000012 0000014 0000015 0000016 0000017 0000018 0000019 0000020 0000021 0000022 0000024 0000025 0000026 0000027 0000028 0000029 0000042 0000043 0000044 0000045 0000046

Clear

Prognostic relevance of microenvironmental factors CD163 and CD8 combined with EZH2 and chromosome 18 gain in a validation cohort of follicular lymphoma patients of the Lunenburg Lymphoma Biomarker Consortium

Background: In follicular lymphoma (FL), studies addressing the prognostic value of microenvironment-related immunohistochemical (IHC) markers and tumor cell-related genetic markers have yielded conflicting results, precluding implementation in practice. Therefore, the Lunenburg Lymphoma Biomarker Consortium (LLBC) performed a validation study for published markers. Methods: To maximize sensitivity, an end-of-spectrum design was applied for 122 uniformly immunochemotherapy-treated FL patients retrieved from international trials and registries; early failure (EF): progression or lymphoma-related death <2 years versus long remission: response duration of >5 years. IHC staining for T-cells and macrophages was performed on tissue microarrays from initial biopsy and scored with a validated computer-assisted protocol. Shallow whole-genome and deep targeted sequencing was performed on the same samples. Results: 96/122 cases with complete molecular and immunohistochemical data were included in the analysis. EZH2 wild-type (p=0.006), gain of chromosome 18 (p=0.002), low percentages of CD8+ cells (p=0.011) and CD163+ areas (p=0.038) were associated with EF. No significant differences in other markers were observed, thereby refuting previous claims on their prognostic significance. Conclusion: Using an optimized study design, this LLBC study validates wild-type EZH2 status, gain of chromosome 18, low percentages of CD8+ cells and CD163+ area as predictors of EF to immunochemotherapy in FL.
Dataset EGAD00001002738
Genomic characterization of 9p- syndrome

We characterized the precise genomic breakpoints of the complex structural variant associated with 9p- syndrome in one individual.
Study phs002054
Homozygous IL37 mutation leads to infantile inflammatory bowel disease

Whole-exome sequencing of a trio (parents and offspring) reveals IL37 mutation leads to infantile IBD.
Study phs002040
DAC for "HIPSD&R-seq enables scalable genomic copy number and transcriptome profiling"

This is the DAC for the study "HIPSD&R-seq enables scalable genomic copy number and transcriptome profiling" of PD Dr. Aurélie Ernst (a.ernst@dkfz.de) B420, DKFZ.
Dac EGAC50000000452
Exome analysis of cardiomyopathy patients with DSG2 variants

This research aims to identify genetic background of cardiomyopathy patients with DSG2 pathogenic variants by exome analysis.
Study JGAS000565
Exome analysis of cardiomyopathy patients with TNNT2 variant

This research aims to identify genetic background of cardiomyopathy patients with TNNT2 pathogenic variants by exome analysis.
Study JGAS000567
Exome analysis of cardiomyopathy patients with PKP2 variants

This research aims to identify genetic background of cardiomyopathy patients with PKP2 pathogenic variants by exome analysis.
Study JGAS000566
NGS sequencing for genes from the patients of OU Genome Project

This research aims to identify disease related HLA alleles by genome analysis for cardiac sarcoidosis.
Study JGAS000568
Whole genome sequencing analysis of colorectal cancers

Whole genome sequencing analysis of colorectal cancers with MSI or MSS and their immuno-genomic features
Study JGAS000157
Targeted Capture DNA Sequencing

We performed targeted capture DNA sequencing for 29 genes in extranodal NK/T-cell lymphoma, nasal type (n=67).
Study JGAS000548

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