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