Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.06.011
Abstract: Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants,… read more here.
Keywords: position effects; position; apparently balanced; chromosomal rearrangements ... See more keywords
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing
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DOI: 10.3390/genes14010082
Abstract: Familial apparently balanced translocations (ABTs) are usually not associated with a phenotype; however, rarely, ABTs segregate with discordant phenotypes in family members carrying identical rearrangements. The current study was a follow-up investigation of four familial… read more here.
Keywords: discordant phenotypes; apparently balanced; phenotypes familial; whole exome ... See more keywords
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Asian Journal of Andrology"
DOI: 10.4103/aja2021106
Abstract: Apparently balanced chromosomal structural rearrangements are known to cause male infertility and account for approximately 1% of azoospermia or severe oligospermia. However, the underlying mechanisms of pathogenesis and etiologies are still largely unknown. Herein, we… read more here.
Keywords: chromosomal structural; apparently balanced; structural rearrangements; etiology ... See more keywords