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525 results for "retinitis+pigmentosa+2017+surgery+blog+"my+twin+died+at+birth""

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cancer genomics case set case-control clinical cohort clinical trial cohort collection control set copy number variation (cnv) cross-sectional epigenetics exome sequencing family gene regulation study interventional longitudinal longitudinal cohort metagenomics multiplex families nested case-control observational other parent-offspring prospective randomized controlled clinical trial rna sequencing rnaseq single cell analysis transcriptome analysis transcriptome sequencing tumor tumor vs. matched-normal whole genome sequencing

Dataset types

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

Dataset technologies

complete genomics hiseq x ten illumina illumina genome analyzer ii illumina genome analyzer iix illumina hiscansq illumina hiseq 2000 illumina hiseq 2500 illumina hiseq 3000 illumina hiseq 4000 illumina methylationepic array illumina miseq illumina novaseq 6000 illumina novaseq x infinium methylationepic beadchip infinium methylationepic v2.0 beadchip ion genestudio s5 ion torrent proton minion nanostring technology nextseq 2000 nextseq 500 nextseq 550 sequel unspecified

Phenotypes

[CL:0000057] [CL:0000236] [CL:0000842] [CL:2000006] [DOID:0050756] [EFO:0000174] [EFO:0000503] [EFO:0000540] [EFO:0004905] [EFO:0005803] [EFO:1000042] [HP:0001258] [NCIT:C0549184] [NCIT:C115935] [NCIT:C27204] [NCIT:C2952] [Orphanet:110] [Orphanet:183518] [Orphanet:217569] [Orphanet:2322] [Orphanet:3095] [Orphanet:552] [Orphanet:63] [Orphanet:791] [Orphanet:886] [Orphanet:98664] [PATO:0000461] [UBERON:0001968] [UBERON:0002046] [UBERON:0010393]

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

Clear

REL-2017-07-1276

HipSci - Bardet-Biedl Syndrome - Expression Array - July 2017
Dataset EGAD00010001340
REL-2017-07-2028

HipSci - Bleeding and Platelet Disorders - Expression Array - July 2017
Dataset EGAD00010001384
REL-2017-07-2016

HipSci - Battens Disease - Genotyping Array - July 2017
Dataset EGAD00010001366
REL-2017-07-2007

HipSci - Kabuki Syndrome - Genotyping Array - July 2017
Dataset EGAD00010001348
REL-2017-07-2008

HipSci - Usher Syndrome - Genotyping Array - July 2017
Dataset EGAD00010001350
REL-2017-07-2009

HipSci - Alport Syndrome - Genotyping Array - July 2017
Dataset EGAD00010001352
REL-2017-07-2010

HipSci - Congenital Hyperinsulinia - Genotyping Array - July 2017
Dataset EGAD00010001354
REL-2017-07-07

HipSci - Hypertrophic Cardiomyopathy - Genotyping Array - July 2017
Dataset EGAD00010001356
REL-2017-07-2014

HipSci - Macular Dystrophy - Genotyping Array - July 2017
Dataset EGAD00010001362
PAGE2 Dataset Nov 2017 (Ref: PAGE2 GIM 2018)

PAGE2 Dataset Nov 2017 (Ref: PAGE2 GIM 2018)
Dataset EGAD00001004843

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