Clinical validation of a haplotyping method with next-generation sequencing

Clin Chem. 2015 Feb;61(2):430-1. doi: 10.1373/clinchem.2014.228627. Epub 2014 Nov 11.

Authors

Kendall W Cradic¹, Stephen J Murphy², Robert A Sikkink³, Claudia Neuhauser⁴, George Vasmatzis⁵, Stefan K G Grebe⁶

Affiliations

¹ Department of Laboratory Medicine and Pathology.
² Department of Molecular Medicine.
³ Advanced Genomics Technology Center Mayo Clinic and Foundation Rochester, MN.
⁴ Informatics Institute University of Minnesota Twin Cities Minneapolis, MN.
⁵ Department of Molecular Medicine grebe.stefan@mayo.edu vasmatzis.george@mayo.edu.
⁶ Department of Laboratory Medicine and Pathology grebe.stefan@mayo.edu vasmatzis.george@mayo.edu.

PMID: 25388428
DOI: 10.1373/clinchem.2014.228627

No abstract available

Publication types

Letter
Validation Study

MeSH terms

Adrenal Hyperplasia, Congenital / genetics
Genetic Testing / methods
Haplotypes*
High-Throughput Nucleotide Sequencing / methods*
Humans
Probability
Steroid 21-Hydroxylase / genetics

Substances

CYP21A2 protein, human
Steroid 21-Hydroxylase