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Trio Analysis of Recurrent Pregnancy Loss Integrated Bioinformatics Genomics Study (TRIOS)

The overall goal of the study “Trio Analysis of Recurrent Pregnancy Loss Integrated Bioinformatics Genomics Study (TRIOS)”, supported by NICHD (5R01HD105256-04), is to identify genetic risk factors associated with pregnancy loss. The dataset has been derived from multi-site collection of clinical information and samples from families affected by recurrent miscarriages. Genome sequencing has been performed on euploid product of conception (POC) samples and biological parent(s), including quad families (mother, father, and two POCs), trios (mother, father, and POC), and duos (a parent and POC). DNA from parental blood or saliva and POC DNA from chorionic villi tissue, fetal organ tissue or amniotic fluid were used for Genome sequencing. A panel of fifteen short tandem repeat (STR) polymorphic markers was used to confirm biological relatedness in each family. Genome sequencing libraries were prepared using the Kapa EvoPlus V2 library preparation kit (Roche). Genome sequencing was performed using the Illumina NovaSeq 6000 instrument. Variant call format (VCF) files for single nucleotide variants (SNV) are provided in this dataset.