Next-generation sequencing: A frameshift in skeletal dysplasia gene discovery

Osteoporosis International

Volumn 25, Issue 2, 2014, Pages 407-422

  Lazarus, S ^a,b   Zankl, A ^a,c   Duncan, E L ^a,b,c  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

Massively parallel sequencing; Next generation sequencing; Skeletal dysplasia

Indexed keywords

DNA FRAGMENT; GENOMIC DNA; OLIGONUCLEOTIDE; RNA; SINGLE STRANDED DNA;

ALLELE; AUTOSOMAL DOMINANT INHERITANCE; BONE DYSPLASIA; DNA FRAGMENTATION; DNA LIBRARY; DNA STRAND; DNA TEMPLATE; EXOME; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN GENOME PROJECT; INHERITANCE; MONOGENIC DISORDER; OSTEOGENESIS IMPERFECTA; OSTEOPOROSIS; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PUBLICATION; RARE DISEASE; RECESSIVE INHERITANCE; REVIEW; X CHROMOSOME; Y CHROMOSOME; CHROMOSOME MAP; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES; SYNDROME;

BONE DISEASES, DEVELOPMENTAL; CHROMOSOME MAPPING; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; OSTEOPOROSIS; SYNDROME;

EID: 84899129361     PISSN: 0937941X     EISSN: 14332965     Source Type: Journal    
DOI: 10.1007/s00198-013-2443-1     Document Type: Review

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