First custom next-generation sequencing infertility panel in Latin America: design and first results.

JBRA Assisted Reproduction
Daniela LorenziSergio Papier

Abstract

To present the development of the first custom gene panel for the diagnosis of male and female infertility in Latin America. We developed a next-generation sequencing (NGS) panel that assesses genes associated with infertility. The panel targeted exons and their flanking regions. Selected introns in the CFTR gene were also included. The FMR1 gene and Y chromosome microdeletions were analyzed with other recommended methodologies. An in-house developed bioinformatic pipeline was applied for the interpretation of the results. Clear infertility phenotypes, idiopathic infertility, and samples with known pathogenic variants were evaluated. A total of 75 genes were selected based on female (primary ovarian insufficiency, risk of ovarian hyperstimulation syndrome, recurrent pregnancy loss, oocyte maturation defects, and embryo development arrest) and male conditions (azoospermia, severe oligospermia, asthenozoospermia, and teratozoospermia). The panel designed was used to assess 25 DNA samples. Two of the variants found were classified as pathogenic and enable the diagnosis of a woman with secondary amenorrhea and a man with oligoasthenoteratozoospermia. Targeted NGS assay metrics resulted in a mean of 180X coverage, with more than 98%...Continue Reading

Methods Mentioned

BETA
chromosomal aberrations
Assay
electrophoresis
PCR
PCRs
Exome Sequencing
hormone replacement therapy

Software Mentioned

Genome Analysis Toolkit
bcl2fastq
FinchTV
FastQC
Burrows Aligner
ClinGen
GeneMapper
NGS
SnpEff

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