Concurrent whole-genome haplotyping and copy number profiling of single cells (Illumina)

ABSTRACT: 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 that 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 as 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 deciphering WGA-

ORGANISM(S): Homo sapiens

SUBMITTER: Masoud Zamani Esteki 

PROVIDER: E-GEOD-60909 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress