Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform.

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 Genomics

journal_title

Human genomics

authors

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 MY

doi

10.1186/s40246-018-0187-x

subject

Has Abstract

pub_date

2019-01-03 00:00:00

pages

1

issue

1

eissn

1473-9542

issn

1479-7364

pii

10.1186/s40246-018-0187-x

journal_volume

13

pub_type

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