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1The test is performed on urine samples that require no processing at the site of collection and without target sequencing or amplification.
2Existing applications of targeted sequencing have mainly been qualitative analyses of genomic DNA.
3Targeted sequencing was carried out to catalog hot spot mutations in cancer genes.
4Conclusions: Targeted sequencing of maternal plasma DNA for NIPD of monogenic diseases is feasible.
5Methods: A patient with ELR-HNSCC was selected for targeted sequencing.
6Pathogenic variants were identified by genomic analysis and targeted sequencing.
7Plasma cfDNA and leukocyte DNA were subjected to targeted sequencing across 981 cancer genes.
8Several methods have been developed to enrich for genomic regions of interest for targeted sequencing.
9Targeted sequencing and droplet digital PCR were used to validate somatic variants and CNA, respectively.
10We performed targeted sequencing of pre-treatment and PD tumor samples from 54 EGFR-mutant NSCLC patients.
11PKD1 was genotyped in each individual by targeted sequencing.
12High confidence mutations were identified by exome sequencing and results were validated using deep targeted sequencing.
13Here we report the BAC-based targeted sequencing of behaviorally-relevant genes and flanking regions in the prairie vole.
14Next-generation targeted sequencing showed no recurring mutations.
15Each participant underwent targeted sequencing of TGM1.
16Targeted sequencing and WES were used to screen 93 children with molecularly unexplained diffuse or focal brain overgrowth.