Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: The Saudi experience

Clinical Genetics

Volumn 84, Issue 3, 2013, Pages 203-208

  Alkuraya, Fowzan S ^a,b  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Autozygosity; Cascade carrier testing; Exome; Homozygosity; Next generation sequencing; PGD; Preconception testing; Premarital testing; Termination

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL GENETICS; CLINICAL PRACTICE; CONSANGUINITY; GENETIC COUNSELING; GENETIC SERVICE; GENOMICS; HAPLOTYPE; HEALTH CARE POLICY; HEALTH CARE SYSTEM; HOMOZYGOSITY; HUMAN; INFANT MORTALITY; KARYOTYPING; NATIONAL HEALTH SERVICE; POPULATION GENETICS; POPULATION SIZE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SAUDI ARABIA;

AUTOZYGOSITY; CASCADE CARRIER TESTING; EXOME; HOMOZYGOSITY; NEXT-GENERATION SEQUENCING; PGD; PRECONCEPTION TESTING; PREMARITAL TESTING; TERMINATION;

CHROMOSOME MAPPING; CONSANGUINITY; DELIVERY OF HEALTH CARE; DNA MUTATIONAL ANALYSIS; GENERAL PRACTICE; GENETICS, MEDICAL; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; KARYOTYPING; SAUDI ARABIA;

EID: 84881611807     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12131     Document Type: Review

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