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TranscriptomicsTowards a comprehensive structural variation map of an individual human genome for personalized medicine
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
ORGANISM(S): Homo sapiens 
2013-02-12 | E-GEOD-20290 | biostudies-arrayexpress
TranscriptomicsAffymetrix SNP and CNV data for the HuRef individual
The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleotide polymorphism (SNP) and small (<10bp) insertion/deletions (indels), but annotation of larger stru...
ORGANISM(S): Homo sapiens 
2013-02-12 | E-GEOD-20275 | biostudies-arrayexpress
TranscriptomicsIllumina SNP and CNV data for the HuRef individual
The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleotide polymorphism (SNP) and small (<10bp) insertion/deletions (indels), but annotation of larger stru...
ORGANISM(S): Homo sapiens 
2013-02-12 | E-GEOD-20284 | biostudies-arrayexpress
TranscriptomicsAgilent custom 244K array CGH data for the HuRef individual
The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleotide polymorphism (SNP) and small (<10bp) insertion/deletions (indels), but annotation of larger stru...
ORGANISM(S): Homo sapiens 
2013-02-12 | E-GEOD-20287 | biostudies-arrayexpress
TranscriptomicsAgilent custom 24M array CGH data for the HuRef individual
The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleotide polymorphism (SNP) and small (<10bp) insertion/deletions (indels), but annotation of larger stru...
ORGANISM(S): Homo sapiens 
2013-02-12 | E-GEOD-20288 | biostudies-arrayexpress
TranscriptomicsNimbleGen 42M data for the HuRef individual
The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleotide polymorphism (SNP) and small (<10bp) insertion/deletions (indels), but annotation of larger stru...
ORGANISM(S): Homo sapiens 
2013-02-12 | E-GEOD-20289 | biostudies-arrayexpress
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