Journal: PLoS ONE

Article Title: An Integrated Genomic and Expression Analysis of 7q Deletion in Splenic Marginal Zone Lymphoma

doi: 10.1371/journal.pone.0044997

Figure Lengend Snippet: CGH using the chromosome 7 (Ch7) BAC tile-path array, Agilent 244A oligonucleotide array platform and chromosome 7 gene resolution oligonucleotide array maps the MDR to a 2.8 Mb region at 7q32 (Panel A). As shown by Affymetrix gene expression analyses, the genes on 7q, particularly those within the MDR are significantly under-expressed in SMZL with 7q deletion than those without the deletion. Panel B shows the genes significantly differentially expressed between SMZL with and without 7q deletion according to P values, while Panel C displays those with further fold change more than 1.25×SD (standard deviation).

Article Snippet: summarised the 7q deletion in SMZL detected by CGH using a chromosome-7 BAC tile-path array (17 cases) and the Agilent aCGH 244A array CGH (10 cases) from our previous studies , .

Techniques: Expressing, Standard Deviation

Journal: International Journal of Molecular Sciences

Article Title: Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing

doi: 10.3390/ijms23094819

Figure Lengend Snippet: Clinical cycle of comprehensive preimplantation genetic testing. The process starts with family genetic testing in order to establish normal and disease-associated family haplotypes. Next, oocyte stimulation, retrieval, and fertilization are performed. Embryos surviving until day 5 undergo laser-assisted hatching and biopsy. Biopsy material consisting of a few trophectoderm cells is amplified using one of the WGA techniques. WGA material is further used to assess the embryonic genome, including haplotype, causative variant, aneuploidy, and CNV analyses. The disease-free embryo is subjected to embryo transfer to the uterine cavity. The whole cycle can be repeated within 24 h, with a day-6 embryo being transferred. If the genetic testing takes longer, then embryos are vitrified and thawed before being transferred. PGT—preimplantation genetic testing, WGA—whole-genome amplification, IVF—in vitro fertilization, MPS—massively parallel sequencing, CNV—copy number variation.

Article Snippet: PGT performed on trophectoderm biopsies using PicoPLEX in combination with BlueGnome’s BAC arrays (later Illumina, now discontinued) and subsequently MPS began a major revolution in the availability of human PGT and forever changed the face of clinical in vitro fertilization [ , , ].

Techniques: Amplification, Variant Assay, Whole Genome Amplification, In Vitro, Sequencing