Chromosome 18 gene dosage map 2.0

Jannine D. Cody, Patricia Heard, David Rupert, Minire Hasi-Zogaj, Annice Hill, Courtney Sebold, Daniel Hale

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

In 2009, we described the first generation of the chromosome 18 gene dosage maps. This tool included the annotation of each gene as well as each phenotype associated region. The goal of these annotated genetic maps is to provide clinicians with a tool to appreciate the potential clinical impact of a chromosome 18 deletion or duplication. These maps are continually updated with the most recent and relevant data regarding chromosome 18. Over the course of the past decade, there have also been advances in our understanding of the molecular mechanisms underpinning genetic disease. Therefore, we have updated the maps to more accurately reflect this knowledge. Our Gene Dosage Map 2.0 has expanded from the gene and phenotype maps to also include a pair of maps specific to hemizygosity and suprazygosity. Moreover, we have revamped our classification from mechanistic definitions (e.g., haplosufficient, haploinsufficient) to clinically oriented classifications (e.g., risk factor, conditional, low penetrance, causal). This creates a map with gradient of classifications that more accurately represents the spectrum between the two poles of pathogenic and benign. While the data included in this manuscript are specific to chromosome 18, they may serve as a clinically relevant model that can be applied to the rest of the genome.

Original languageEnglish (US)
Pages (from-to)961-970
Number of pages10
JournalHuman genetics
Volume137
Issue number11-12
DOIs
StatePublished - Dec 1 2018

Fingerprint

Chromosomes, Human, Pair 18
Gene Dosage
Chromosome Duplication
Phenotype
Molecular Sequence Annotation
Chromosome Deletion
Inborn Genetic Diseases
Penetrance
Genome
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Cody, J. D., Heard, P., Rupert, D., Hasi-Zogaj, M., Hill, A., Sebold, C., & Hale, D. (2018). Chromosome 18 gene dosage map 2.0. Human genetics, 137(11-12), 961-970. https://doi.org/10.1007/s00439-018-1960-6
Cody, Jannine D. ; Heard, Patricia ; Rupert, David ; Hasi-Zogaj, Minire ; Hill, Annice ; Sebold, Courtney ; Hale, Daniel. / Chromosome 18 gene dosage map 2.0. In: Human genetics. 2018 ; Vol. 137, No. 11-12. pp. 961-970.
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Cody, JD, Heard, P, Rupert, D, Hasi-Zogaj, M, Hill, A, Sebold, C & Hale, D 2018, 'Chromosome 18 gene dosage map 2.0', Human genetics, vol. 137, no. 11-12, pp. 961-970. https://doi.org/10.1007/s00439-018-1960-6

Chromosome 18 gene dosage map 2.0. / Cody, Jannine D.; Heard, Patricia; Rupert, David; Hasi-Zogaj, Minire; Hill, Annice; Sebold, Courtney; Hale, Daniel.

In: Human genetics, Vol. 137, No. 11-12, 01.12.2018, p. 961-970.

Research output: Contribution to journalArticle

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Cody JD, Heard P, Rupert D, Hasi-Zogaj M, Hill A, Sebold C et al. Chromosome 18 gene dosage map 2.0. Human genetics. 2018 Dec 1;137(11-12):961-970. https://doi.org/10.1007/s00439-018-1960-6