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Next-generation sequencing in newborn screening [Elektronski vir] : a review of current stateRemec, Žiga Iztok ...Newborn screening was first introduced at the beginning of the 1960s with thesuccessful implementation of the first phenylketonuria screening programs. Earlyexpansion of the included disorders was ... slow because each additional disorderscreened required a separate test. Subsequently, the technological advancementsof biochemical methodology enabled the scaling-up of newborn screening, mostnotably with the implementation of tandem mass spectrometry. In recent years, wehave witnessed a remarkable progression of high-throughput sequencing technologies,which has resulted in a continuous decrease of both cost and time required forgenetic analysis. This has enabled more widespread use of the massive multiparallelsequencing. Genomic sequencing is now frequently used in clinical applications,and its implementation in newborn screening has been intensively advocated. Theexpansion of newborn screening has raised many clinical, ethical, legal, psychological,sociological, and technological concerns over time. This review provides an overview ofthe current state of next-generation sequencing regarding newborn screening includingcurrent recommendations and potential challenges for the use of such technologies innewborn screening.Source: Frontiers in genetics [Elektronski vir]. - ISSN 1664-8021 (Vol. 12, May 2021, str. 1-11)Type of material - e-articlePublish date - 2021Language - englishCOBISS.SI-ID - 64846339
Author
Remec, Žiga Iztok |
Trebušak Podkrajšek, Katarina |
Repič-Lampret, Barbka |
Kovač, Jernej, 1983- |
Grošelj, Urh |
Tesovnik, Tine |
Battelino, Tadej |
Debeljak, Maruša
Topics
phenylketonuria |
newborn screening |
high-throughput sequencing |
fenilketonurija |
presejanje novorojenčkov |
zaporedje z visoko zmogljivostjo
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Remec, Žiga Iztok | 31306 |
Trebušak Podkrajšek, Katarina | 20253 |
Repič-Lampret, Barbka | 14020 |
Kovač, Jernej, 1983- | 32181 |
Grošelj, Urh | 33868 |
Tesovnik, Tine | 37490 |
Battelino, Tadej | 13023 |
Debeljak, Maruša | 15657 |
Source: Personal bibliographies
and: SICRIS
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