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Open access

Research article

First published 2025

Inter-tool Analysis of a NIST Dataset for Assessing Baseline Nucleic Acid Sequence Screening

Tyler S. Laird, Kevin Flyangolts, Craig Bartling [...]

Applied Biosafety

Open access

Research article

First published 2016

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

Miyono M. Hendrix, Stephanie L. Foster, Suzanne K. Cordovado

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Research article

First published 2024-6

Thalassemia screening by third-generation sequencing: Pilot study in a Thai population

Kuntharee Traisrisilp, Yu Zheng, Kwong Wai Choy [...]

Obstetric Medicine

Open access

Research article

First published 2022

Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening

Wesley Schaal, Adam Ameur, Ulla Olsson-Strömberg [...]

Cancer Informatics

Open access

Research article

First published 2024-09

A Sensitivity Study for Interpreting Nucleic Acid Sequence Screening Regulatory and Guidance Documentation: Toward a Foundational Synthetic Nucleic Acid Sequence Screening Framework

Bryan T. Gemler, Chiranjit Mukherjee, Patrick A. Fullerton [...]

Applied Biosafety

Retricted access

Research article

First published 2020-03

Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing

Baran Erman, Funda Çipe

Pediatric Allergy,Immunology,and Pulmonology

Retricted access

Research article

First published 2000-06

Population Screening for Hemochromatosis by PCR Using Sequence-Specific Primers

M. G. Guttridge, K. Carter, M. Worwood [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 1990-06

Use of Short Oligonucleotides to Screen Cosmid Libraries for Clones Containing G/C-Rich Sequences

Georg Melmer, Manuel Buchwald

DNA and Cell Biology

Retricted access

Research article

First published 2017-11

Validation of Next-Generation Sequencer for 24-Chromosome Aneuploidy Screening in Human Embryos

Kabir Sachdeva, Richard Discutido, Firas Albuz [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2015-4

Quick Genetic Screening Using Targeted Next-Generation Sequencing in Patients With Tuberous Sclerosis

Qing Liu, Yan Huang, Mingrong Zhang [...]

Journal of Child Neurology

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