Ontology highlight
ABSTRACT:
SUBMITTER: Abelleyro MM
PROVIDER: S-EPMC6460640 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Abelleyro Miguel Martín MM Marchione Vanina Daniela VD Palmitelli Micaela M Radic Claudia Pamela CP Neme Daniela D Larripa Irene Beatriz IB Medina-Acosta Enrique E De Brasi Carlos Daniel CD Rossetti Liliana Carmen LC
European journal of human genetics : EJHG 20190109 4
Among other applications of long-distance haplotype phasing in clinical genetics, determination of linked DNA markers as surrogate for problematic structural variants (e.g., repeat-mediated rearrangements) is essential to perform diagnosis from low-quality DNA samples. We describe a next-of-kin-independent (physical) phasing approach based on inverse-PCR (iPCR) paired-end amplification (PI). This method enables typing the multialleles of the short tandem repeat (STR) F8Int21[CA]n at the F8-intro ...[more]