Abstract:
BACKGROUND:Recent advances in semiconductor sequencing platform (SSP) have provided new methods for preimplantation genetic diagnosis/screening (PGD/S). The present study aimed to evaluate the applicability and efficiency of SSP in PGD/S. METHODS:The artificial positive single-cell-like DNAs and normal single-cell samples were chosen to test our semiconductor sequencing platform for preimplantation genetic diagnosis/screening (SSP-PGD/S) method with two widely used whole-genome amplification (WGA) kits. A total of 557 single blastomeres were collected from in vitro fertilization (IVF) couples, and their WGA products were processed and analyzed by our SSP-PGD/S method in comparison with array comparative genomic hybridization (array-CGH). RESULTS:Our SSP-PGD/S method indicated high compatibilities with two commercial WGA kits. For 557 single blastomeres, our method with four million reads in average could detect 24-chromosome aneuploidies as well as microdeletion/microduplication of the size over 4 Mb, providing 100% consistent conclusion with array-CGH method in the classification of whether it was transplantable. CONCLUSIONS:Our studies suggested that SSP-PGD/S represents a valuable alternative to array-CGH and brought PGD/S into a new era of more rapid, accurate, and economic.
journal_name
Hum Genomicsjournal_title
Human genomicsauthors
Wang LY,Rao XQ,Luo YQ,Liu B,Peng CF,Chen D,Yan K,Qian YQ,Yang YM,Huang YZ,Chen M,Sun YX,Li HG,Ye YH,Jin F,Liu HL,Dong MYdoi
10.1186/s40246-018-0187-xsubject
Has Abstractpub_date
2019-01-03 00:00:00pages
1issue
1eissn
1473-9542issn
1479-7364pii
10.1186/s40246-018-0187-xjournal_volume
13pub_type
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