Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
NB Tan, R Stapleton, Z Stark… - Molecular genetics & …, 2020 - Wiley Online Library
Background Our primary aim was to evaluate the systematic reanalysis of singleton exome
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …
[HTML][HTML] Recent advances in the detection of repeat expansions with short-read next-generation sequencing
M Bahlo, MF Bennett, P Degorski, RM Tankard… - …, 2018 - ncbi.nlm.nih.gov
Short tandem repeats (STRs), also known as microsatellites, are commonly defined as
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA Van Den Bergen, G Robevska… - Genome biology, 2016 - Springer
Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …
Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions
Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed …
an understanding of who should be considered for testing and when it should be performed …
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
Purpose: To undertake the first prospective cost-effectiveness study of whole-exome
sequencing (WES) as an early, routine clinical test for infants with suspected monogenic …
sequencing (WES) as an early, routine clinical test for infants with suspected monogenic …
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in
patients with suspected monogenic kidney disease. Methods We performed clinically …
patients with suspected monogenic kidney disease. Methods We performed clinically …
[HTML][HTML] Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Purpose The purpose of the study was to implement and prospectively evaluate the
outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Methods …
outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Methods …
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
KB Howell, S Eggers, K Dalziel, J Riseley… - …, 2018 - Wiley Online Library
Objective The severe epilepsies of infancy (SEI) are a devastating group of disorders that
pose a major care and economic burden on society; early diagnosis is critical for optimal …
pose a major care and economic burden on society; early diagnosis is critical for optimal …
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus
Background In about half of all patients with a suspected monogenic disease, genomic
investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive …
investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive …