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[HTML][HTML] Newborn screening by genomic sequencing: opportunities and challenges
D Bick, A Ahmed, D Deen, A Ferlini, N Garnier… - International Journal of …, 2022 - mdpi.com
Newborn screening for treatable disorders is one of the great public health success stories
of the twentieth century worldwide. This commentary examines the potential use of a new …
of the twentieth century worldwide. This commentary examines the potential use of a new …
The use of whole genome and exome sequencing for newborn screening: challenges and opportunities for population health
AC Woerner, RC Gallagher, J Vockley… - Frontiers in …, 2021 - frontiersin.org
Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …
burden of disease for conditions with significant clinical impact on neonates. Screening tests …
[HTML][HTML] Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project
Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …
Perspectives of rare disease experts on newborn genome sequencing
Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable
disorders currently undetected by conventional newborn screening. Despite broad …
disorders currently undetected by conventional newborn screening. Despite broad …
Principles of genomic newborn screening programs: a systematic review
L Downie, J Halliday, S Lewis, DJ Amor - JAMA network open, 2021 - jamanetwork.com
Importance Genomic newborn screening (gNBS) may optimize the health and well-being of
children and families. Screening programs are required to be evidence based, acceptable …
children and families. Screening programs are required to be evidence based, acceptable …
Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project: a randomized clinical trial
Importance Newborn genomic sequencing (nGS) may provide health benefits throughout
the life span, but there are concerns that it could also have an unfavorable (ie, negative) …
the life span, but there are concerns that it could also have an unfavorable (ie, negative) …
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes
Genome sequencing is enabling precision medicine—tailoring treatment to the unique
constellation of variants in an individual's genome. The impact of recurrent pathogenic …
constellation of variants in an individual's genome. The impact of recurrent pathogenic …
Parental attitudes toward standard newborn screening and newborn genomic sequencing: findings from the BabySeq study
B Armstrong, KD Christensen, CA Genetti… - Frontiers in …, 2022 - frontiersin.org
Introduction: With increasing utility and decreasing cost of genomic sequencing,
augmentation of standard newborn screening (NBS) programs with newborn genomic …
augmentation of standard newborn screening (NBS) programs with newborn genomic …
Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?
S White, T Mossfield, J Fleming… - European Journal of …, 2023 - nature.com
Since the introduction of genome sequencing in medicine, the factors involved in deciding
how to integrate this technology into population screening programs such as Newborn …
how to integrate this technology into population screening programs such as Newborn …
Challenges of using whole genome sequencing in population newborn screening
Challenges of using whole genome sequencing in population newborn screening | The BMJ
Skip to main content Intended for healthcare professionals Access provided by Google Indexer …
Skip to main content Intended for healthcare professionals Access provided by Google Indexer …