Clinical validation of a haplotyping method with next-generation sequencing.
Department of Laboratory Medicine and Pathology.
Kendall W
KW
Cradic
Department of Molecular Medicine.
Stephen J
SJ
Murphy
Advanced Genomics Technology Center Mayo Clinic and Foundation Rochester, MN.
Robert A
RA
Sikkink
Informatics Institute University of Minnesota Twin Cities Minneapolis, MN.
Claudia
C
Neuhauser
Department of Molecular Medicine grebe.stefan@mayo.edu vasmatzis.george@mayo.edu.
George
G
Vasmatzis
Department of Laboratory Medicine and Pathology grebe.stefan@mayo.edu vasmatzis.george@mayo.edu.
Stefan K G
SK
Grebe
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006239:Haplotypes; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D011336:Probability; D013255:Steroid 21-Hydroxylase / Q000235:genetics
C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase