2020
DOI: 10.1038/s41598-020-60704-0
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Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening

Abstract: Whole-genome sequencing of preimplantation human embryos to detect and screen for genetic diseases is a technically challenging extension to preconception screening. combining preconception genetic screening with preimplantation testing of human embryos facilitates the detection of de novo mutations and self-validates transmitted variant detection in both the reproductive couple and the embryo's samples. Here we describe a trio testing workflow that involves whole-genome sequencing of amplified DNA from biopsi… Show more

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Cited by 20 publications
(13 citation statements)
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“…This is due to the inherent limitations of currently used WGA methods that introduce method-specific artifacts, limiting the accuracy of downstream analyses for a given WGA method. Previous studies have performed whole genome sequencing of embryo biopsies using multiple displacement amplification (MDA) 29,30 . However, those studies were also hampered by the artifacts introduced by MDA, including loss of coverage and uneven coverage that hamper variant calling.…”
Section: Discussionmentioning
confidence: 99%
“…This is due to the inherent limitations of currently used WGA methods that introduce method-specific artifacts, limiting the accuracy of downstream analyses for a given WGA method. Previous studies have performed whole genome sequencing of embryo biopsies using multiple displacement amplification (MDA) 29,30 . However, those studies were also hampered by the artifacts introduced by MDA, including loss of coverage and uneven coverage that hamper variant calling.…”
Section: Discussionmentioning
confidence: 99%
“…Will it be possible to assess genomic status of spermatozoa without “killing” them? Methods proposed by Watanabe et al [ 316 ] and Yang et al [ 317 ] are very labor-intensive and time-consuming; therefore, conventional genomic analyses of cells from preimplantation embryos [ 318 , 319 ] are still the best way today to avoid the birth of offspring with serious developmental problems.…”
Section: Icsi: Its Short History and Challenges To Be Consideredmentioning
confidence: 99%
“…These approaches rely on the use of a PRS 7 that combines the effects of tens or hundreds or thousands of genetic variants into a single predictor. However, due to the limited quantity and quality of DNA in single-cell or few-cell embryo biopsies, attempts to comprehensively profile the genomes of embryos are costly and time intensive 8 10 , suffer from inaccuracies related to allele dropout, require extended relatives 2 or rely on imputation, which hampers the detection of rare deleterious variants in genes like BRCA1 11 . To overcome these limitations, we have extended a strategy 1 for whole-genome reconstruction (WGR) that uses parental genome sequencing and embryo genotyping to predict the inherited genome sequence of an embryo.…”
Section: Mainmentioning
confidence: 99%