Special Issue "Next Generation Sequencing in Newborn Screening"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (25 November 2018).
Special Issues and Collections in MDPI journals
Topical Collection in International Journal of Neonatal Screening: Feature Papers in Newborn Screening
Special Issue in International Journal of Neonatal Screening: History, Present and Future of Neonatal Screening
Interests: newborn screening for Duchenne and congenital muscularč dystrophy including DNA confirmation using targeted NGS; Prenatal and newborn screening for lead and other heavy metals (Inductively Coupled Plasma-Mass Spectrometry); use of tandem mass spectrometry for newborn screening; development of 2nd-tier DNA confirmation for primary newborn screening
In recent years, next generation sequencing (NGS) has secured a place in newborn screening. Early papers still described concepts, which especially invited a bio-ethical discussion to deliberate on the pros and cons of the introduction of NGS, be it targeted or as a whole genome or exome approach. That did not stop the technical and epidemiological developments. Thus, these days, NGS technology is actually applied within newborn screening, almost exclusively in a second TIER setting, but this may change very soon. Developments concerning NGS in NBS have been quite astounding and we feel that it is time to determine where we are in this development, what is already in place and what yet needs to be done.
This Special Issue on NGS in Newborn screening invites papers on:
Application of NGS in NBS in current practice
Proof of principle applications and retrospective studies
Prospective pilot studies
Application in current routine practice, both first TIER and second TIER
Contributions concerning medical ethical issues of NGS in NBS
QC QA issues/proficiency samples in NGS
Dr. Peter C.J.I. Schielen
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.