PURPOSE: Microarray technology has revolutionized the field of clinical genetics with the ability to detect very small copy number changes. However, challenges remain in linking genotype with phenotype. Our goal is to enable a clinical geneticist to align the molecular karyotype information from an individual patient with the annotated genomic content, so as to provide a clinical prognosis. METHODS: We have combined data regarding copy number variations, microdeletion syndromes, and classical chromosome abnormalities, with the sparse but growing knowledge about the biological role of specific genes to create a genomic map of Chromosome 18 with clinical utility. RESULTS: We have created a draft model of such a map, drawing from our long-standing interest in and data regarding the abnormalities of Chromosome 18. CONCLUSION: We have taken the first step toward creating a genomic map that can be used by the clinician in counseling and directing preventive or symptomatic care of individuals with Chromosome 18 abnormalities.
PURPOSE: Microarray technology has revolutionized the field of clinical genetics with the ability to detect very small copy number changes. However, challenges remain in linking genotype with phenotype. Our goal is to enable a clinical geneticist to align the molecular karyotype information from an individual patient with the annotated genomic content, so as to provide a clinical prognosis. METHODS: We have combined data regarding copy number variations, microdeletion syndromes, and classical chromosome abnormalities, with the sparse but growing knowledge about the biological role of specific genes to create a genomic map of Chromosome 18 with clinical utility. RESULTS: We have created a draft model of such a map, drawing from our long-standing interest in and data regarding the abnormalities of Chromosome 18. CONCLUSION: We have taken the first step toward creating a genomic map that can be used by the clinician in counseling and directing preventive or symptomatic care of individuals with Chromosome 18 abnormalities.
Authors: Yue Luo; Karen E Hermetz; Jodi M Jackson; Jennifer G Mulle; Anne Dodd; Karen D Tsuchiya; Blake C Ballif; Lisa G Shaffer; Jannine D Cody; David H Ledbetter; Christa L Martin; M Katharine Rudd Journal: Hum Mol Genet Date: 2011-07-04 Impact factor: 6.150
Authors: Jannine D Cody; Patricia Heard; David Rupert; Minire Hasi-Zogaj; Annice Hill; Courtney Sebold; Daniel E Hale Journal: Hum Genet Date: 2018-11-17 Impact factor: 4.132
Authors: Jannine D Cody; Minire Hasi; Bridgette Soileau; Patricia Heard; Erika Carter; Courtney Sebold; Louise O'Donnell; Brian Perry; Robert F Stratton; Daniel E Hale Journal: Hum Genet Date: 2013-10-05 Impact factor: 4.132
Authors: Joanne M Nguyen; Krista J Qualmann; Rebecca Okashah; AmySue Reilly; Mikhail F Alexeyev; Dennis J Campbell Journal: Am J Med Genet C Semin Med Genet Date: 2015-08-03 Impact factor: 3.908
Authors: Jannine D Cody; Minire Hasi-Zogaj; Patricia Heard; Annice Hill; David Rupert; Courtney Sebold; Bridgette Soileau; Daniel E Hale Journal: Mol Genet Genomic Med Date: 2018-03-30 Impact factor: 2.183