Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature

• Published in: American journal of human genetics Vol. 94; no. 5; pp. 695 - 709
• Main Authors: Ordulu, Zehra, Wong, Kristen E., Currall, Benjamin B., Ivanov, Andrew R., Pereira, Shahrin, Althari, Sara, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.05.2014; Cell Press; Elsevier
• Subjects: Base Sequence; Chromosome Aberrations - classification; Chromosomes; Cytogenetic Analysis - classification; DNA Mutational Analysis; Genome, Human - genetics; Genomics; Humans; Information sharing; Molecular Sequence Data; Sequence Alignment; Software; Terminology as Topic

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 seq...