Oct
23
Oct
23
Key stakeholders’ perspectives on genomic newborn screening implementation models
Presenting Author: Hadley Stevens Smith
Oct
23
Massively Parallel Technologies for Biochemical Annotation of DNA Variants and Protein Abundance
Presenting Author: Michael Gelb
Oct
23
Evaluating the Added Value of Whole Genome Sequencing over Exome Sequencing in Genomic Newborn Screening
Presenting Author: Jose Manuel Gonzalez de Aledo Castillo
Oct
23
Oct
23
Oct
23
Fast dried blood spot proteomics for second-tier newborn screening after first-tier WGS
Presenting Author: Michael Gelb
Oct
23
The ‘Lifetime Genome’ – Findings from Genomics England’s Public Standing Group
Presenting Author: Harriet Etheredge
Oct
23
Costing Informed Consent at Scale: Lessons from ScreenPlus for Genomic NBS
Presenting Author: Nicole Kelly
Oct
23
Top 10 lessons learned since launch of the GUARDIAN expanded newborn screening (NBS) study
Presenting Author: Brenna Boyd
Oct
23
The CANGUR project: A Consensus Roadmap for Pediatric Cancer Susceptibility Genes in Newborn Screening
Presenting Author: Estela Carrasco López
Oct
23
Priorities for the ethical, legal and social aspects for the use of genomics in newborn screening: A Best-Worst Scaling survey
Presenting Author: Amber Salisbury
Oct
23
Genomic Landscape of Metabolic and Immunologic Rare Diseases in Korean Pediatric Patients
Presenting Author: Sung-Mi Shim
Oct
23
Targeted next-generation sequencing as a second-tier test in newborn screening for severe combined immunodeficiency to reduce secondary findings
Presenting Author: Annelotte Duintjer
Oct
23
A multi-stakeholder perspective on genomic sequencing in newborn screening: how should we proceed?
Presenting Author: Saskia G Smits
Oct
23
Oct
23
Rapid Whole Genome Sequencing in Critically Ill Neonates with Suspected Genetic Disorder in Korea
Presenting Author: Mi-Hyun Park
Oct
23
High specificity of short-read genome sequencing technology for detecting SMN1-SMA within an older healthy cohort
Presenting Author: Timothy S Hall
Oct
23
Newborn Screening for Carnitine Uptake Defect in Sweden -Evaluation of genetic 2ndtier analysis
Presenting Author: Veroniqa Lundbäck
Oct
23
Oct
23
Navigating the ELSI considerations in Newborn Genomic Sequencing
Presenting Author: Anna Lewis
Oct
23
The INFANT study - steps towards a Canadian genomic newborn screen
Presenting Author: Neal Sondheimer