Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

By E. Worthey, Alan N. Mayer, G. Syverson, D. Helbling, Benedetta B Bonacci, B. Decker, Jaime M Serpe, Trivikram Dasu, M. Tschannen, Regan L. Veith and 12 more. Genetics in Medicine, 2011

699 citations recorded by the source corpus.

Subfields: Hematology, Immunology, Rheumatology

View Paper: https://www.semanticscholar.org/paper/5952192008cf1df81f3a9fc39b4d9f99f02c0b2d

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Immunology

1. K. Papadakis
2. G. Ramos

In Rheumatology

1. Teri Manolio

Citations in the corpus

• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014, background): “There have been a growing number of publicized successes in the appl ication of genomic sequencing and interpretations for children with rare diseases of unknow etiology and patients with refractory cancers [4-11].”
• Genome Medicine: past, present and future (2011, methodology): “Whole exome sequencing (WES) has also now been used to find the medically actionable alleles in defined clinical Mendelian phenotypes for which the causative genes were unknown (for example, [3,22­24]), and to make a definitive diagnosis for a patient with a complex trait [25].”
• Integrative omics for health and disease (2018, background): “However, the adoption of clinical genomics has expanded rapidly over the past few years from the first successful diagnosis 1 to multi-institutional and international adoption 72 .”
• Assuring the quality of next-generation sequencing in clinical laboratory practice (2012, background): “1253(b)(2)(i) that the method produces correct results.”
• Challenges of Big Data Analysis (2013, positive): “For example, the large amount of genome sequencing data now make it possible to uncover the genetic markers of raredisorders [32,33] andfindassociationsbetween diseases and rare sequence variants [34,35].”
• Mechanisms of Disease: Inflammatory Bowel Diseases. (2019, background): “For example, a rare mutation affecting the regulatory function of the X-linked inhibitor of apoptosis (XIAP) gene was found to result in early onset IBD refractory to treatment in a 15-month old boy (13).”