12 Result(s)
within
Thierry Voet
Biomedicine
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Protocol
Studying the Role of Astrocytes at Synapses Using Single-Cell Transcriptomics
The central nervous system (CNS) contains a diverse number of neuronal and non-neuronal cell types that physically interact with one another. It is these physical interactions which underlie many essential fun...
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Article
Methods and applications for single-cell and spatial multi-omics
The joint analysis of the genome, epigenome, transcriptome, proteome and/or metabolome from single cells is transforming our understanding of cell biology in health and disease. In less than a decade, the fiel...
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Protocol
Single-Cell Genomic and Epigenomic DNA Analyses
This chapter will be dedicated to methods for single-cell genome and epigenome analysis of the human brain. Examining the (epi)genome at a high resolution and sensitivity, allowing for the detection of heterog...
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Article
In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages
Although chromosomal instability (CIN) is a common phenomenon in cleavage-stage embryogenesis following in vitro fertilization (IVF)1–3, its rate in naturally conceived human embryos is unknown. CIN leads to mosa...
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Protocol
Identification of Low Allele Frequency Mosaic Mutations in Alzheimer Disease
Germline mutations ofAPP,PSEN1, andPSEN2 genes cause autosomal dominant Alzheimer disease (AD). Somatic variants of the same genes may underlie pathogenesis in sporadic AD, which is the most prevalent form of the...
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Article
Prenatal and pre-implantation genetic diagnosis
This Timeline article reviews the evolution of both prenatal and pre-implantation genetic testing, from their historic origins to ongoing development and implementation of tools for genome-wide single-cell and...
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Article
Correction: Corrigendum: Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue
Nat. Genet. 47, 367–372 (2015); published online 2 March 2015; corrected after print 5 May 2015 In the version of this article initially published, author Manasa Ramakrishna was omitted from the author list. T...
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Article
Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue
Colin Cooper and colleagues report genome-wide sequences of multiple samples of multifocal cancer and morphologically normal tissue from the prostates of three men. They found high levels of mutations in morph...
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Article
Open AccessSingle cell segmental aneuploidy detection is compromised by S phase
Carriers of balanced translocations are at high risk for unbalanced gametes which can result in recurrent miscarriages or birth defects. Preimplantation genetic diagnosis (PGD) is often offered to select balan...
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Article
Preimplantation genetic diagnosis guided by single-cell genomics
Preimplantation genetic diagnosis (PGD) aims to help couples with heritable genetic disorders to avoid the birth of diseased offspring or the recurrence of loss of conception. Following in vitro fertilization, on...
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Article
Open AccessMeiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found ...
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Article
Chromosome instability is common in human cleavage-stage embryos
Vanneste and her colleagues describe an array-based approach for scoring genome-wide DNA copy number variations and loss of heterozygosity in single cells. They show that chromosome instability patterns, remin...
