Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

American Journal of Human Genetics

Volumn 88, Issue 4, 2011, Pages 469-481

  Talkowski, Michael E ^a,b,d   Ernst, Carl ^a,b   Heilbut, Adrian ^a   Chiang, Colby ^a   Hanscom, Carrie ^a   Lindgren, Amelia ^c   Kirby, Andrew ^a,d   Liu, Shangtao ^a   Muddukrishna, Bhavana ^a   Ohsumi, Toshiro K ^a,b   Shen, Yiping ^a   Borowsky, Mark ^a,b   Daly, Mark J ^a,d   Morton, Cynthia C ^c,d   Gusella, James F ^a,b,d  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; CHROMOSOME REARRANGEMENT; CLINICAL PRACTICE; DIAGNOSTIC PROCEDURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LIBRARY; GENE MAPPING; GENE SEQUENCE; GENE TRANSLOCATION; GENETICS; GENOME; HERITABILITY; HUMAN; KARYOTYPING; MICROARRAY ANALYSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME INVERSION; CHROMOSOMES, HUMAN; COMPUTATIONAL BIOLOGY; DNA BARCODING, TAXONOMIC; DNA BREAKS; FEMALE; GENE LIBRARY; GENE REARRANGEMENT; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTERSPERSED REPETITIVE SEQUENCES; KARYOTYPING; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC;

EID: 79953724351     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.03.013     Document Type: Article

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