Precise Exome Analysis Of Blastocyst Biopsy Scale Samples Using Primary Template-Directed Amplification
Samitova, A.; Belova, V.; Vasiliadis, I.; Repinskaia, Z.; Gorodnicheva, T.; Romanov, E.; Pogosyan, M.; Gaysin, E.; Nazarenko, T.; Rebrikov, D.; Korostin, D.
Show abstract
This study evaluates primary template-directed amplification (PTA) for whole exome sequencing (WES) on small fibroblast cell groups, mimicking the limited cell quantities typical of trophectoderm embryo biopsies. PTAs consistent amplification reduces allelic dropout (ADO) and impoves uniform coverage, overcoming challenges associated with conventional methods such as multiple displacement amplification (MDA). Using fibroblast samples alongside well-characterised genomic references (E701, NA12878), we benchmarked PTA-WES, achieving 97.5% target region coverage at 10x, meeting American College of Medical Genetics and Genomics (ACMG) standards. Preliminary results from embryo biopsies sequenced with PTA-WES showed a median coverage of 102x, significantly improving upon the variability and coverage gaps observed in MDA-WES. The findings support PTAs potential to enhance the clinical applicability of WES for preimplantation genetic testing for monogenic disorders (PGT-M), expanding capabilities to detect inherited and de novo mutations in embryos. Further optimisation and variant detection analyses are planned to evaluate PTAs robustness for routine clinical use.
Matching journals
The top 5 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Comparative analysis of novel MGISEQ-2000 sequencing platform vs Illumina HiSeq 2500 for whole-genome sequencing 94%
- Variant calling and genotyping accuracy of ddRAD-seq: comparison with 20X WGS in layers 93%
- Single cell RNA sequencing of nc886, a non-coding RNA transcribed by RNA polymerase III, with a primer spike-in strategy 93%
Similar papers in this journal
- Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses 95%
- Optical Genome Mapping And Single Nucleotide Polymorphism Microarray: An Integrated Approach For Investigating Challenging Cases Of Products Of Conception 94%
- Array Comparative Genomic Hybridisation and Droplet Digital PCR uncover recurrent copy number variation of the titin segmental duplication region 93%
Similar papers in this journal
- Localization of balanced chromosome translocation breakpoints by long-read sequencing on the Oxford Nanopore platform 93%
- Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis 92%
- Deletion of FUNDC2 and CMC4 on chromosome Xq28 is sufficient to cause hypergonadotropic hypogonadism in men 91%
Similar papers in this journal
- System Analysis Of The Sequencing Quality Of Human Whole Exome Samples On Bgi Ngs Platform 94%
- Optimised multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer 94%
- Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data 93%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.