Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

BMC Genomics

Volumn 13, Issue 1, 2012, Pages

  Ramos, Enrique ^a   Levinson, Benjamin T ^a   Chasnoff, Sara ^a   Hughes, Andrew ^a   Young, Andrew L ^a   Thornton, Katherine ^a   Li, Allie ^a   Vallania, Francesco L M ^a   Province, Michael ^a   Druley, Todd E ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Exome; Genomics; Hybridization capture; Indexed capture; Multiplexed capture; Rare variants; SPLINTER

Indexed keywords

OLIGONUCLEOTIDE;

ACCURACY; ALGORITHM; ARTICLE; BASE PAIRING; COMPUTER PROGRAM; CONTROLLED STUDY; DNA DETERMINATION; DNA HYBRIDIZATION; DNA LIBRARY; DNA MICROARRAY; DNA PURIFICATION; DNA SEQUENCE; EXOME; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MALE; METHODOLOGY; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; POPULATION GENETICS; SENSITIVITY AND SPECIFICITY; ULTRASOUND;

ALGORITHMS; ALLELES; EXOME; FEMALE; GENE FREQUENCY; GENE LIBRARY; GENETIC TESTING; HUMANS; MALE; NUCLEAR FAMILY; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SENSITIVITY AND SPECIFICITY; SEQUENCE ALIGNMENT; SOFTWARE;

EID: 84870447978     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-13-683     Document Type: Article

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