Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing

• मुख्य लेखकों: Nicole Ruiz-Schultz (लेखक), Bryce Asay (लेखक), Andreas Rohrwasser (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2021-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequencing as a second-tier and/or diagnostic test. In th...