Screening

Screening

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Kingsmore, Stephen F; Smith, Laurie D; Kunard, Chris M; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo;
Fabric synopsis:

Describes the development and testing of an automated Newborn Screening assay benchmarked against results from 454,707 subjects from the UK Biobank

The American Journal of Human Genetics
Pubmed Abstract

Screening

P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders

Schleit, Jennifer; Wright, Meredith; Olsen, Lauren; Blincow, Eric; Caylor, Sara; Chambers, Christina; del Angel, Guillermo; Ellsworth, Katarzyna Kasia; Feigenbaum, Annette; Frise, Erwin;
Fabric synopsis:

In this abstract, Rady's compares results from their newborn screening platform, BeginNGS to rapid Whole genome sequencing results in the NICU and finds good sensitivity between the 2 methods.

Genetics in Medicine Open
Pubmed Abstract

Genetic Disease

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder

Jill L. Maron, MD, MPH; Stephen Kingsmore, MD; Bruce D. Gelb, MD; Jerry Vockley, MD, PhD; Kristen Wigby, MD; Jennifer Bragg, MD; Annemarie Stroustrup, MD, MPH; Brenda Poindexter, MD, MS; Kristen Suhrie, MD; Jae H. Kim, MD, PhD; Thomas Diacovo, MD, PhD; Cynthia M. Powell, MD, MS; Andrea Trembath, MD, MPH; Lucia Guidugli, PhD; Katarzyna A. Ellsworth, PhD; Dallas Reed, MD; Anne Kurfiss, MPH; Janis L. Breeze, MPH; Ludovic Trinquart, PhD; Jonathan M. Davis, MD OBJECTIVE: To compare outcomes of genomic sequencing with those of a targeted neonatal gene-sequencing test.
Fabric synopsis:

A comparison of outcomes of genomic sequencing with those of a targeted neonatal gene-sequencing test shows high sensitivity for the panel screening approach

JAMA. 2023
Pubmed Abstract
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