Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 65-72

  Hollegaard, Mads Vilhelm ^a   Grauholm, Jonas ^b   Nielsen, Ronni ^c   Grove, Jakob ^d   Mandrup, Susanne ^c   Hougaard, David Michael ^a  

^a STATENS SERUM INSTITUT   (Denmark)

^b AROS Applied Biotechnology A/S   (Denmark)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^d AARHUS UNIVERSITY   (Denmark)

Author keywords

Guthrie cards; Neonatal dried blood spot samples; Next generation sequencing; Whole exome sequencing; Whole genome sequencing

Indexed keywords

ADULT; ARTICLE; DNA EXTRACTION; DRIED BLOOD SPOT SAMPLE; DRIED BLOOD SPOT TESTING; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; NEWBORN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; EXOME; GENETICS; HEALTH CARE FACILITY; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; LABORATORY DIAGNOSIS; NEWBORN SCREENING; PROCEDURES;

BIOLOGICAL SPECIMEN BANKS; DRIED BLOOD SPOT TESTING; EXOME; GENOME, HUMAN; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; POLYMORPHISM, SINGLE NUCLEOTIDE; SPECIMEN HANDLING;

EID: 84882908509     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.06.004     Document Type: Article

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