Expanded carrier screening for inherited genetic disease using exome and genome sequencing
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DOI: 10.1002/jgc4.1964
Abstract: The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow… read more here.
Keywords: using exome; exome genome; expanded carrier; genome sequencing ... See more keywords
The current landscape of clinical exome and genome reanalysis in the U.S.
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1968
Abstract: The majority of patients undergoing exome or genome sequencing receive a nondiagnostic result. Periodic reanalysis is known to increase diagnostic yield from exome sequencing, yet laboratory reanalysis practices are obscure. We sought to define the… read more here.
Keywords: exome genome; genome reanalysis; reanalysis; clinical exome ... See more keywords
Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward
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DOI: 10.3389/fgene.2022.865400
Abstract: Population-based newborn screening (NBS) is among the most effective public health programs ever launched, improving health outcomes for newborns who screen positive worldwide through early detection and clinical intervention for genetic disorders discovered in the… read more here.
Keywords: testing newborn; wide testing; genome wide; exome genome ... See more keywords
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
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DOI: 10.3390/biology13020093
Abstract: Simple Summary There are many potential benefits of obtaining a genetic diagnosis for an adult diagnosed with a neuromuscular disorder. However, not all patients with neuromuscular disorders will be offered broad genetic testing to identify… read more here.
Keywords: adult neuromuscular; exome genome; genetic testing; genome sequencing ... See more keywords