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TranscriptomicsSingle-cell copy number varation detection
Detection of genomic rearrangements from a single cell instead of a population of cells is an emerging research technique with important applications in the study of human fertility, constitutional chromosomal disorders, and tumor progression. Here, we develop a method to improve the detection of si...
ORGANISM(S): Homo sapiens 
2011-08-23 | E-GEOD-27892 | biostudies-arrayexpress
UnknownLarge-scale analysis of tandem repeat variability in the human genome.
Not available
S-EPMC4027155 | biostudies-literature
UnknownAnnotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease.
Not available
S-EPMC3580443 | biostudies-literature
UnknownPseudoautosomal region 1 length polymorphism in the human population.
Not available
S-EPMC4222609 | biostudies-literature
UnknownSingle-cell paired-end genome sequencing reveals structural variation per cell cycle.
Not available
S-EPMC3695511 | biostudies-literature
UnknownMultiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.
Not available
S-EPMC12047281 | biostudies-literature
TranscriptomicsValproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach
Induced pluripotent stem cells (iPSCs) with potential for therapeutic applications can be derived from somatic cells via ectopic expression of a set of limited and defined transcription factors. However, due to risks of random integration of the reprogramming transgenes into the host genome, the low...
ORGANISM(S): Homo sapiens 
2012-07-23 | E-GEOD-26940 | biostudies-arrayexpress
UnknownConcurrent whole-genome haplotyping and copy-number profiling of single cells.
Not available
S-EPMC4473724 | biostudies-literature
UnknownHaploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Not available
S-EPMC5533198 | biostudies-literature
UnknownDe Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Not available
S-EPMC7536573 | biostudies-literature
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