Antibiotic resistance is ancient
The discovery of antibiotics more than 70 years ago initiated a period of drug innovation
and implementation in human and animal health and agriculture. These discoveries were …
and implementation in human and animal health and agriculture. These discoveries were …
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
…, JR MacDonald, T Nalpathamkalam, WWL Sung… - Nature …, 2017 - nature.com
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD)
to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic …
to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic …
[HTML][HTML] Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
…, T Nalpathamkalam, G Pellecchia, WWL Sung… - Genetics in …, 2018 - nature.com
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
Importance The use of genome-wide tests to provide molecular diagnosis for individuals with
autism spectrum disorder (ASD) requires more study. Objective To perform chromosomal …
autism spectrum disorder (ASD) requires more study. Objective To perform chromosomal …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …
[PDF][PDF] A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data
…, JR MacDonald, WWL Sung… - The American Journal of …, 2018 - cell.com
A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test
has been accurate detection of copy-number variations (CNVs). Here, we used several …
has been accurate detection of copy-number variations (CNVs). Here, we used several …
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
…, K Ho, SL Pereira, J de Rijke, WWL Sung… - Nature Genetics, 2024 - nature.com
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/…
and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/…
Genome sequencing as a diagnostic test in children with unexplained medical complexity
Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …
pediatric health care system, with high resource use and associated health care costs. A …
[HTML][HTML] A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder
Purpose Whole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic
yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but …
yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but …
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
…, JR MacDonald, C Lu, T Nalpathamkalam, WWL Sung… - Cmaj, 2018 - Can Med Assoc
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data
resource that integrates whole genome sequencing data and health information. We describe …
resource that integrates whole genome sequencing data and health information. We describe …
