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blog dac dataset documentation study

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Federated ega

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Study type

affected sib pairs aggregate genomic data cancer genomics case set case-cohort case-control clinical cohort clinical diagnostic testing clinical genetic testing clinical trial cohort collection community control set copy number variation (cnv) cross-sectional double-blind electronic medical records epigenetics eqtl exome sequencing extended pedigrees family family linkage full transcriptome sequencing gene regulation study genotype genotype/expression genotype/expression array gwas individual-level genomic data interventional longitudinal longitudinal cohort marker discovery 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 patient snp array analysis stem cell lines synthetic genomics transcriptome analysis transcriptome sequencing transcriptome sequencing (tumor only) tumor tumor vs. matched-normal twin virus capture sequencing whole genome 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 solid 4 system ab solid system ab solid system 3.0 affymetrix 6.0 array bgiseq-500 complete genomics dnbseq-g400 flow-injection tof-m spectrometry. gencove gridion hiseq x five hiseq x ten human clariom d arrays humanht-12 illumina illumina epic v2.0 illumina genome analyzer illumina genome analyzer ii illumina genome analyzer iix illumina global screening array v2.0 illumina hiscan illumina hiscansq illumina hiseq 1500 illumina hiseq 2000 illumina hiseq 2500 illumina hiseq 3000 illumina hiseq 4000 illumina hiseq x illumina hiseq4000 illumina humancoreexome beadchip array illumina humancoreexome-24v1-0 illumina humancoreexome-24v1-1 illumina humanimmuno v1.0 illumina infinium coreexome-24 illumina infinium methylationepic beadchip (850 k) illumina iscan illumina iselect illumina iseq 100 illumina mega array illumina miseq illumina nextseq-500 illumina novaseq 6000 illumina novaseq x illumina novaseq x plus ilumina infinium humanmethylationepic beadchip array infinium cytosnp-850k v1.4 bead chips array, illumina infinium gsa infiniumomniexpress-24v1-2_a1 ion torrent proton ion torrent s5 ion torrent s5 xl life tech - solid llumina 2.5-8 low pass whole genome sequencing (lp-wgs) minion nanostring technology nextseq 1000 nextseq 2000 nextseq 500 nextseq 550 omniexpress omniexpress-24 v1.1 pacbio rs pacbio rs ii promethion sequel sequel ii thermofisher scientific clariomtm d pico assay unknown humanomni2-5-8-v1-1-c unknown humanomni25-8v1-1 unknown humanomni25m-8v1-1 unspecified

Phenotypes

[CL:0000037] [CL:0000049] [CL:0000050] [CL:0000051] [CL:0000096] [CL:0000557] [CL:0000560] [CL:0000576] [CL:0000625] [CL:0000765] [CL:0000837] [CL:0002026] [CL:0002092] [EFO:0000001] [EFO:0000094] [EFO:0000174] [EFO:0000196] [EFO:0000198] [EFO:0000209] [EFO:0000220] [EFO:0000222] [EFO:0000228] [EFO:0000248] [EFO:0000289] [EFO:0000309] [EFO:0000313] [EFO:0000339] [EFO:0000349] [EFO:0000403] [EFO:0000437] [EFO:0000502] [EFO:0000519] [EFO:0000538] [EFO:0000621] [EFO:0000637] [EFO:0000691] [EFO:0000730] [EFO:0000760] [EFO:0000980] [EFO:0001376] [EFO:0002394] [EFO:0002422] [EFO:0002429] [EFO:0002508] [EFO:0002885] [EFO:0002886] [EFO:0002887] [EFO:0002888] [EFO:0002889] [EFO:0002890] [EFO:0002891] [EFO:0002892] [EFO:0002918] [EFO:0002933] [EFO:0002937] [EFO:0002939] [EFO:0003025] [EFO:0003137] [EFO:0003761] [EFO:0004708] [EFO:0004890] [EFO:0004905] [EFO:0005168] [EFO:0005235] [EFO:0005543] [EFO:0005701] [EFO:0005740] [EFO:0007143] [EFO:0008498] [EFO:0008524] [EFO:0009052] [EFO:0009119] [EFO:0009121] [EFO:1000028] [EFO:1000042] [EFO:1000043] [EFO:1000075] [EFO:1000138] [EFO:1000139] [EFO:1000149] [EFO:1000231] [EFO:1000238] [EFO:1000292] [EFO:1000388] [EFO:1000414] [EFO:1000416] [EFO:1000575] [EFO:1001230] [EFO:1001480] [EFO:1001514] [EFO:1001515] [EFO:1001830] [EFO:1001950] [EFO:1001958] [EFO:1001963] [HP:0000028] [HP:0000122] [HP:0000138] [HP:0000160] [HP:0000175] [HP:0000194] [HP:0000201] [HP:0000219] [HP:0000248] [HP:0000268] [HP:0000272] [HP:0000286] [HP:0000307] [HP:0000311] [HP:0000316] [HP:0000331] [HP:0000343] [HP:0000347] [HP:0000356] [HP:0000358] [HP:0000403] [HP:0000405] [HP:0000431] [HP:0000463] [HP:0000474] [HP:0000486] [HP:0000490] [HP:0000494] [HP:0000506] [HP:0000519] [HP:0000527] [HP:0000535] [HP:0000572] [HP:0000582] [HP:0000588] [HP:0000664] [HP:0000708] [HP:0000713] [HP:0000722] [HP:0000729] [HP:0000735] [HP:0000736] [HP:0000739] [HP:0000750] [HP:0000752] [HP:0000767] [HP:0000787] [HP:0000817] [HP:0000871] [HP:0000921] [HP:0000939] [HP:0000953] [HP:0000954] [HP:0000957] [HP:0000978] [HP:0001028] [HP:0001053] [HP:0001182] [HP:0001249] [HP:0001250] [HP:0001252] [HP:0001256] [HP:0001263] [HP:0001270] [HP:0001328] [HP:0001380] [HP:0001382] [HP:0001508] [HP:0001510] [HP:0001513] [HP:0001622] [HP:0001629] [HP:0001631] [HP:0001642] [HP:0001643] [HP:0001782] [HP:0001800] [HP:0001824] [HP:0001845] [HP:0001848] [HP:0001863] [HP:0001864] [HP:0001999] [HP:0002013] [HP:0002019] [HP:0002020] [HP:0002061] [HP:0002123] [HP:0002194] [HP:0002208] [HP:0002211] [HP:0002232] [HP:0002236] [HP:0002307] [HP:0002317] [HP:0002353] [HP:0002465] [HP:0002474] [HP:0002574] [HP:0002705] [HP:0002714] [HP:0002757] [HP:0002779] [HP:0002926] [HP:0003121] [HP:0003186] [HP:0003196] [HP:0003808] [HP:0004322] [HP:0004325] [HP:0004349] [HP:0004370] [HP:0004474] [HP:0004482] [HP:0005180] [HP:0005487] [HP:0005831] [HP:0006934] [HP:0006986] [HP:0007328] [HP:0007544] [HP:0007663] [HP:0007970] [HP:0008115] [HP:0008551] [HP:0008734] [HP:0008935] [HP:0009927] [HP:0009933] [HP:0010562] [HP:0010743] [HP:0010862] [HP:0010863] [HP:0011090] [HP:0011123] [HP:0011220] [HP:0011311] [HP:0011344] [HP:0011645] [HP:0011800] [HP:0011924] [HP:0011968] [HP:0012189] [HP:0012382] [HP:0012450] [HP:0012745] [HP:0030055] [HP:0030190] [HP:0030276] [HP:0040019] [HP:0040199] [HP:0100033] [HP:0100559] [HP:0100728] [HP:0100814] [MONDO:0001056] [MONDO:0002601] [MONDO:0002627] [MONDO:0002630] [MONDO:0002631] [MONDO:0003142] [MONDO:0003537] [MONDO:0003572] [MONDO:0005575] [MONDO:0006058] [MONDO:0007254] [MONDO:0008170] [MONDO:0008903] [MONDO:0016690] [MONDO:0016691] [MONDO:0016700] [MONDO:0016735] [MONDO:0017387] [MONDO:0019474] [MONDO:0020511] [NCIT:C177374] [NCIT:C25588] [Orphanet:124] [Orphanet:252202] [Orphanet:269] [Orphanet:3095] [Orphanet:399] [Orphanet:654] [Orphanet:768] [Orphanet:811] [PATO:0000461] [UBERON:0000992] [UBERON:0002371] [UBERON:0003889] [UBERON:0012168] [UBERON:0013756]

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

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The Genomic Map of Polad in Open Access

The main goal is to prepare and share WGS/WES of Polish population
Study EGAS50000000115
The Genomic Map of Polad in Open Access

The main goal is to prepare and share WGS/WES of Polish population
Study EGAS50000000121
The Genomic Map of Polad in Open Access

The main goal is to prepare and share WGS/WES of Polish population
Study EGAS50000000120
The Genomic Map of Polad in Open Access

The main goal is to prepare and share WGS/WES of Polish population
Study EGAS50000000119
The Genomic Map of Polad in Open Access

The main goal is to prepare and share WGS/WES of Polish population
Study EGAS50000000113
The Genomic Map of Polad in Open Access

The main goal is to prepare and share WGS/WES of Polish population
Study EGAS50000000112
The Genomic Map of Polad in Open Access

The main goal is to prepare and share WGS/WES of Polish population
Study EGAS50000000111
The Genomic Map of Polad in Open Access

The main goal is to prepare and share WGS/WES of Polish population
Study EGAS50000000110
Whole_Genome_sequencing_of_rhabdomyosarcoma_tumour_tissue

The aim of this study is to investigate the genomic landscape of human cancer.
Study EGAS00001008277
Crohn_s_Exome_Sequencing

The aim is to find rare variants of intermediate penetrance in those at risk of Crohn's disease
Study EGAS00001000385

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