Massively parallel sequencing and rare disease

Human Molecular Genetics

Volumn 19, Issue R2, 2010, Pages

  Ng, Sarah B ^a   Nickerson, Deborah A ^a   Bamshad, Michael J ^a   Shendure, Jay ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC PROCEDURES; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITANCE; MASSIVELY PARALLEL SEQUENCING; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; HIGH THROUGHPUT NUCLEOTIDE SEQUENCING; HUMAN GENOME; RARE DISEASE; REVIEW;

GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; RARE DISEASES;

EID: 79551505365     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq390     Document Type: Article

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