ReviewHuman genetics2017
Human Y chromosome copy number variation in the next generation sequencing era and beyond.
Review in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed.
- The Contribution of Massively Parallel Sequencing in Disclosing Unusual Tri- and Tetra-Allelic Type Patterns Detected at the Multicopy Loci DYS385a/b and DYF387S1.International journal of molecular sciences · 2026Article
- Article
- Initially categorized 46,XY embryo transfer ending with 45,X products of conception-a case report and a review of discordant result management.F&S reports · 2024Article
- NuMY-A qPCR Assay Simultaneously Targeting Human Autosomal, Y-Chromosomal, and Mitochondrial DNA.Genes · 2023Article
- Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions.Nature communications · 2023Article
- New insights into the evolution of human Y chromosome palindromes through mutation and gene conversion.Human molecular genetics · 2021Article
- The Dryas iulia Genome Supports Multiple Gains of a W Chromosome from a B Chromosome in Butterflies.Genome biology and evolution · 2021Article
- Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data.BMC genomics · 2021Article
- Alternatives to amelogenin markers for sex determination in humans and their forensic relevance.Molecular biology reports · 2020Review
- Review
- Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome.Genome biology · 2019Article
- Consequences of Y chromosome microdeletions beyond male infertility.Journal of assisted reproduction and genetics · 2019Review
- Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages.American journal of human genetics · 2018Article
- A systematic review on the genetics of male infertility in the era of next-generation sequencing.Arab journal of urology · 2018Article
- Copy number variation arising from gene conversion on the human Y chromosome.Human genetics · 2018Article
- Human Y-chromosome variation in the genome-sequencing era.Nature reviews. Genetics · 2017Review
- Past successes and future opportunities for the genetics of the human Y chromosome.Human genetics · 2017Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
The human Y chromosome provides a fertile ground for structural rearrangements owing to its haploidy and high content of repeated sequences. The methodologies used for copy number variation (CNV) studies have developed over the years. Low-throughput techniques based on direct observation of rearrangements were developed early on, and are still used, often to complement array-based or sequencing approaches which have limited power in regions with high repeat content and specifically in the presence of long, identical repeats, such as those found in human sex chromosomes. Some specific rearrangements have been investigated for decades; because of their effects on fertility, or their outstanding evolutionary features, the interest in these has not diminished. However, following the flourishing of large-scale genomics, several studies have investigated CNVs across the whole chromosome. These studies sometimes employ data generated within large genomic projects such as the DDD study or the 1000 Genomes Project, and often survey large samples of healthy individuals without any prior selection. Novel technologies based on sequencing long molecules and combinations of technologies, promise to stimulate the study of Y-CNVs in the immediate future.
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