ArticleAmerican journal of human genetics2014
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.Bioinformatics (Oxford, England) · 2026Article
- Long read sequencing identifies complex structural variant landscape and recurrent TERT rearrangements in mucoepidermoid carcinoma.Oral oncology · 2024Article
- Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders.Human genetics · 2024Article
- Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.medRxiv : the preprint server for health sciences · 2024Article
- External Quality Assessment of Maternal Serum Levels of Alpha-Fetoprotein, Free Beta-Human Chorionic Gonadotropin, and Unconjugated Estriol in Detecting Down Syndrome and Neural Tube Defects in the Second Trimester of 87 Maternal Serum Samples, Based on 105-139 Days.Medical science monitor : international medical journal of experimental and clinical research · 2022Article
- Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.Genes, chromosomes & cancer · 2020Review
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- Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements.Reproductive biology and endocrinology : RB&E · 2020Article
- SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.American journal of human genetics · 2020Article
- Targeted next-generation sequencing identifies the disruption of theMolecular cytogenetics · 2020Article
- Identification of ROBO1/2 and SCEL as candidate genes in Kallmann syndrome with emerging bioinformatic analysis.Endocrine · 2020Article
- Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.Journal of human genetics · 2019Article
- The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.American journal of human genetics · 2019Review
- Loss of LDAH associated with prostate cancer and hearing loss.Human molecular genetics · 2018Article
- Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.Genome medicine · 2018Article
- Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.European journal of human genetics : EJHG · 2018Article
- Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.American journal of human genetics · 2017Article
- Article
- Implication of LRRC4C and DPP6 in neurodevelopmental disorders.American journal of medical genetics. Part A · 2017Article
- Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.American journal of human genetics · 2016Article
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9 authors.
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Abstract
With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of "next-generation cytogenetics" (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated BLA(S)T Output Sequence Tool of Nomenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting.
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