Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ilya Henner"'
Autor:
Bennett O. V. Shum, Ilya Henner, Anita Cairns, Carel Pretorius, Urs Wilgen, Paulette Barahona, Jacobus P. J. Ungerer, Glenn Bennett
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Newborn screening (NBS) assays for spinal muscular atrophy (SMA) typically use a polymerase chain reaction (PCR) based assay to identify individuals with homozygous deletion in exon 7 of the SMN1 gene. Due to high DNA sequence homology between SMN1 a
Externí odkaz:
https://doaj.org/article/fb8837bc081546d0817b356bbcbdd86c
Autor:
Bennett O. V. Shum, Letitia M. F. Sng, Rasa Ruseckaite, Ilya Henner, Natalie Twine, Denis C. Bauer, Urs Wilgen, Carel Pretorius, Paulette Barahona, Jacobus P. J. Ungerer, Glenn Bennett
Publikováno v:
Prenatal Diagnosis. 43:109-116
European and Australian guidelines for cystic fibrosis (CF) reproductive carrier screening recommend testing a small number of high frequency CF causing variants, rather than comprehensive CFTR sequencing. The study objective was to determine variant
Publikováno v:
The Journal of Molecular Diagnostics. 19:602-612
The sensitivity and specificity of next-generation sequencing laboratory developed tests (LDTs) are typically determined by an analyte-specific approach. Analyte-specific validations use disease-specific controls to assess an LDT's ability to detect