The long tail and rare disease research: The impact of next-generation sequencing for rare Mendelian disorders

Genetics Research

Volumn 97, Issue , 2015, Pages

  Shen, Tony ^a,b   Lee, Ariel ^a,c   Shen, Carol ^a,b   Lin, C Jimmy ^a  

^a Rare Genomics Institute   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Nova Southeastern University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

ARTICLE; BIOINFORMATICS; COST EFFECTIVENESS ANALYSIS; DNA SEQUENCE; GENETIC SCREENING; GENOME-WIDE ASSOCIATION STUDY; HUMAN; NEXT GENERATION SEQUENCING; PHENOTYPE; RARE DISEASE; REIMBURSEMENT; UNITED STATES; WHOLE EXOME SEQUENCING; BIOLOGY; EXOME; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MEDICAL RESEARCH; PROCEDURES; RARE DISEASES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY;

BIOMEDICAL RESEARCH; COMPUTATIONAL BIOLOGY; EXOME; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; RARE DISEASES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84979851102     PISSN: 00166723     EISSN: 14695073     Source Type: Journal    
DOI: 10.1017/S0016672315000166     Document Type: Article

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