NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

Human Mutation

Volumn 37, Issue 6, 2016, Pages 516-523

  Abulí, Anna ^a   Boada, Montserrat ^b   Rodríguez Santiago, Benjamín ^c   Coroleu, Buenaventura ^b   Veiga, Anna ^b   Armengol, Lluís ^c   Barri, Pedro N ^b   Pérez Jurado, Luis A ^d,e,f   Estivill, Xavier ^a,d,e,g,h,i  

^a Gynaecology and Reproduction   (Spain)

^b Service of Reproduction Medicine   (Spain)

^c QGenomics Laboratory   (Spain)

^d UNIVERSITAT POMPEU FABRA   (Spain)

^e HOSPITAL DEL MAR   (Spain)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^g BARCELONA INSTITUTE OF SCIENCE AND TECHNOLOGY   (Spain)

^h CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

ⁱ SIDRA MEDICAL AND RESEARCH CENTER   (Qatar)

Author keywords

Expanded carrier screening; Gamete donors; Genetic test; NGS; Reproductive medicine

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DONOR; FEMALE; GAMETE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; OOCYTE DONATION; PRIORITY JOURNAL; REPRODUCTION; SCREENING TEST; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME LINKED DISORDER; COPY NUMBER VARIATION; HETEROZYGOTE DETECTION; HIGH THROUGHPUT SEQUENCING; INDEL MUTATION; MUTATION; PROCEDURES; REPRODUCTIVE HEALTH;

DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC CARRIER SCREENING; GENETIC COUNSELING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDEL MUTATION; MALE; MUTATION; OOCYTE DONATION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCTIVE HEALTH;

EID: 84963533561     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22989     Document Type: Article

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