ID

45238

Descrição

Principal Investigator: Jerry Kim, MD, Department of Anesthesiology and Pain Medicine, University of Washington School of Medicine, Seattle, WA, USA MeSH: Malignant Hyperthermia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000405 Malignant hyperthermia (MH) is a genetic disorder that causes a profound metabolic derangement following exposure to certain anesthetics. While approximately half of all cases are associated with ryanodine receptor-1 gene (RYR1) mutations, many cases have an unknown genetic cause. We sought to identify rare variants in novel MH candidate genes by sequencing the protein-coding regions of the genomes of individuals whose disease was either ruled in or out by the gold-standard diagnostic test. We also carefully selected individuals from well-characterized families to use gene-sharing information and maximize efficiency in the study design. Exome sequencing has helped identify the causes of over a dozen Mendelian disorders, has high power at low sample sizes, and is cost-efficient compared to whole-genome sequencing.

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dbGaP study = phs000405

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Versões (2)

1. 13/07/2022 13/07/2022 - Dr. Christian Niklas
2. 12/10/2022 12/10/2022 - Adrian Schulz

Titular dos direitos

Jerry Kim, MD, Department of Anesthesiology and Pain Medicine, University of Washington School of Medicine, Seattle, WA, USA

Transferido a

12 de outubro de 2022

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