In the past several months there have been lots of noteworthy new papers citing the use of Ingenuity® Variant Analysis™ for interpretation and filtering. We round up just a few of them here to offer a sense of the types of studies for which Ingenuity Variant Analysis makes a difference.
A Case of HDR syndrome and Ichthyosis: Dual diagnosis by whole genome sequencing of novel mutations in GATA3 and STS genes
First author: Gregory Goodwin
In this paper, published in January 2016 in The Journal of Clinical Endocrinology & Metabolism, scientists from the Children’s Hospital of Boston report the genomic diagnosis of a young boy whose symptoms could not be understood through existing tests. They used Ingenuity Variant Analysis to filter and interpret the whole-genome data generated by Illumina sequencing, identifying 31 variants potentially associated with the child’s syndrome.
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1
First author: Bo Wang
Scientists from the Shanghai Jiao Tong University School of Medicine published in the American Journal of Medical Genetics results of their study of a three-generation Chinese family with several members who have distal arthrogryposis syndromes. The team performed exome sequencing of two affected and one unaffected family members, and evaluated SNPs and indels with Ingenuity Variant Analysis. They identified a novel pathogenic mutation in a gene that encodes some of the troponin complex, which is important for muscle contraction.
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
First authors: Pauline van Schouwenburg and Emma Davenport
In this Clinical Immunology article, scientists from the UK and US collaborated to study patients with common variable immunodeficiency disorders. They sequenced the full genomes of 34 patients and incorporated transcriptome analysis, using Ingenuity Variant Analysis to identify variants (both known and novel) associated with these disorders.
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy
First author: Pamela Long
In the Journal of the American Heart Association, scientists from the Mayo Clinic and University of Arizona Medical Center describe a whole-exome sequencing study of a family trio with a child diagnosed with idiopathic dilated cardiomyopathy. The scientists used Ingenuity Variant Analysis to analyze variants called from the exomes. They found a novel missense mutation in TNNT2 and other mutations in XIRP2, genes related to heart physiology.
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children
First author: Li Chan
Scientists from Queen Mary University of London published this Frontiers in Endocrinology paper about using exome analysis to determine the genetic basis for disease among 43 patients diagnosed with familial glucocorticoid deficiency. For 40% of patients, exome sequencing alone provided a near-immediate genetic diagnosis. Ingenuity Variant Analysis was used to screen for causal variants.
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