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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
American Journal of Human Genetics, Volume 96, No. 6, Year 2015
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Description
Methods for haplotyping and DNA copy-number typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell's alleles. As a consequence, haplotyping methods suffer from error-prone discrete SNP genotypes (AA, AB, BB) and DNA copy-number profiling remains difficult because true DNA copy-number aberrations have to be discriminated from WGA artifacts. Here, we developed a single-cell genome analysis method that reconstructs genome-wide haplotype architectures as well as the copy-number and segregational origin of those haplotypes by employing phased parental genotypes and deciphering WGA-distorted SNP B-allele fractions via a process we coin haplarithmisis. We demonstrate that the method can be applied as a generic method for preimplantation genetic diagnosis on single cells biopsied from human embryos, enabling diagnosis of disease alleles genome wide as well as numerical and structural chromosomal anomalies. Moreover, meiotic segregation errors can be distinguished from mitotic ones. © 2015 The American Society of Human Genetics
Authors & Co-Authors
Legiüs, Eric
Belgium, Leuven
Ku Leuven
Moreau, Yves
Belgium, Leuven
Ku Leuven
Debrock, Sophie
Belgium, Leuven
Ku Leuven– University Hospital Leuven
D'Hooghe, Thomas Maria
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Vermeesch, Joris Robert
Belgium, Leuven
Ku Leuven
Voet, Thierry
Belgium, Leuven
Ku Leuven
United Kingdom, Hinxton
Wellcome Sanger Institute
Statistics
Citations: 87
Authors: 6
Affiliations: 5
Identifiers
Doi:
10.1016/j.ajhg.2015.04.011
ISSN:
00029297
Research Areas
Genetics And Genomics