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13374 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 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 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

Angiopredict: predicting response for bevacizumab treatment

In ANGIOPREDICT, academic cancer biologists and industry-based biotechnology researchers worked with clinicians to identify biomarkers to predict whether individual metastatic colorectal cancer patients will respond positively to bevacizumab containing therapy. In this retrospective study, copy number profiles were determined using whole genome shallow sequencing, and progression free survival and treatment data was collected.
Study EGAS00001002724
Paroxysmal_Neurological_Disorders_2

We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.
Study EGAS00001000190
Paroxysmal_neurological_Disorders

We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.
Study EGAS00001000386
Validation_of_AML_Mutational_Screening

We recently worked-up a pulldown protocol for studying 21 genes recurrently mutated in AML (Study1770). Our manuscript is currently under revision and to address the reviewers' comments we need to validate some mutations by re-sequencing. In this add-on study we will be using PCR followed by MiSeq for this purpose.
Study EGAS00001000430
Paroxysmal neurological disorders

We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.
Study EGAS00001000048
Orphan_Tumour_Study_NB

The aim of this study is to investigate the transcriptional landscape of human cancer. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/
Study EGAS00001003445
Exome sequencing of pseudomyxoma peritonei

Pseudomyxoma peritonei (PMP) is a subtype of mucinous adenocarcinoma mainly restricted to the peritoneal cavity and most commonly originating from the appendix. In this study, we sequenced whole coding genome of nine PMP tumors and paired normal tissues in order to identify commonly mutated genes and signaling pathways affected in PMP.
Study EGAS00001002418
Targeted sequencing of patients affected by familial or sporadic Alzheimer's disease

The study aimed at identifying variants related to familial cases of Alzheimer's disease by comparing the mutational state of approximately 4000 genes associated to many known diseases ("clinical exome") in members of a family (n=7) of with members with dementia (n=2) and unaffected members (n=5)
Study EGAS00001003856
Genomic and transcriptomic landscape of aggressive thyroid cancer

Molecular characteristics of anaplastic thyroid cancer (ATC) and advanced differentiated thyroid cancers (DTCs) have not been fully elucidated. In this study, we applied various types of massively-parallel sequencing technology to 113 advanced TCs, including 27 ATCs and 86 advanced DTCs, to reveal their genomic and transcriptomic characteristics.
Study EGAS00001003540
Cerebrospinal fluid circulating tumour DNA allows the characterisation and monitoring of medulloblastoma

The molecular characterisation of medulloblastoma, the most common paediatric brain tumour, is crucial for the correct management and treatment of this heterogenous disease. In this study we show that CSF ctDNA allows the molecular characterisation and monitoring of medulloblastoma. This can ultimately facilitate the clinical management of medulloblastoma patients.
Study EGAS00001004651

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