Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide

Journal of Translational Medicine

Volumn 13, Issue 1, 2015, Pages

  Lebo, Roger V ^a,b   Tonk, Vijay S ^c,d  

^a AKRON CHILDREN'S HOSPITAL   (United States)

^b NORTHEAST OHIO MEDICAL UNIVERSITY   (United States)

^c TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER SCHOOL OF MEDICINE   (United States)

^d TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER   (United States)

Author keywords

Disease identification; Most frequent diseases; Targeted patient categories; Test accuracy

Indexed keywords

ADULT; AMNIOCENTESIS; ANEUPLOIDY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; DIAGNOSTIC ACCURACY; ETHNIC GROUP; FETUS; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MICROARRAY ANALYSIS; NEWBORN; PRENATAL SCREENING; PREVALENCE; SCHIZOPHRENIA; X CHROMOSOME LINKED DISORDER; CHILD; DISEASES; FEMALE; GENETIC SCREENING; GENETICS; HUMAN CHROMOSOME; POPULATION GENETICS; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; RARE DISEASE; RECESSIVE GENE;

ADULT; CHILD; CHROMOSOMES, HUMAN; DISEASE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, RECESSIVE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETICS, POPULATION; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; PREGNANCY; PRENATAL DIAGNOSIS; RARE DISEASES;

EID: 84931083784     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/s12967-014-0333-8     Document Type: Article

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