High-throughput sequencing and rare genetic diseases

Molecular Syndromology

Volumn 3, Issue 5, 2012, Pages 197-203

  Makrythanasis, P ^a   Antonarakis, S E ^a,b  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Diagnosis; Ethical aspects; Genetic disorders; Next generation sequencing; Prenatal diagnosis

Indexed keywords

DNA; DNA FRAGMENT; UNTRANSLATED RNA;

AUTOSOMAL RECESSIVE DISORDER; BREAST CANCER; CHROMOSOME ABERRATION; CLINICAL LABORATORY; CLINICAL RESEARCH; COMPARATIVE GENOMIC HYBRIDIZATION; CONFERENCE PAPER; CYSTIC FIBROSIS; DECISION MAKING; DIAGNOSTIC TEST; DNA SEQUENCE; EXOME; FAMILY PLANNING; FETUS; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HEALTH CARE COST; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; HYPOPITUITARISM; KARYOTYPE; MEDICAL DEVICE; MEDICAL ETHICS; NEXT GENERATION SEQUENCING; PREGNANCY TERMINATION; PREGNANT WOMAN; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RARE DISEASE; TRISOMY 21;

EID: 84870788879     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000343941     Document Type: Conference Paper

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