Ontology highlight
ABSTRACT:
SUBMITTER: Hjelm LN
PROVIDER: S-EPMC2928424 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Hjelm Lawrence N LN Chin Ephrem L H EL Hegde Madhuri R MR Coffee Bradford W BW Bean Lora J H LJ
The Journal of molecular diagnostics : JMD 20100715 5
Characterizing heterozygous insertions or deletions in genes by PCR and Sanger sequencing can be a challenge due to overlapping sequencing traces produced by overlapping templates. This is particularly problematic for clinical diagnostic laboratories, because mutations must be precisely characterized. Although the mutation detection software used by clinical diagnostic laboratories reliably identifies small insertions and deletions, overlapping deletions and insertions on opposite chromosomes, c ...[more]