Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

Genome Biology

Volumn 16, Issue 1, 2015, Pages

  Shamseldin, Hanan E ^a   Tulbah, Maha ^a   Kurdi, Wesam ^a   Nemer, Maha ^a   Alsahan, Nada ^a   Al Mardawi, Elham ^b   Khalifa, Ola ^a,e   Hashem, Amal ^c   Kurdi, Ahmed ^c   Babay, Zainab ^d   Bubshait, Dalal K ^a,f   Ibrahim, Niema ^a   Abdulwahab, Firdous ^a   Rahbeeni, Zuhair ^a   Hashem, Mais ^a   Alkuraya, Fowzan S ^a,g  

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

^b SECURITY FORCES HOSPITAL   (Saudi Arabia)

^c Department of Medical Genetics ^*  (Saudi Arabia)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

^e AIN SHAMS UNIVERSITY   (Egypt)

^f IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

^g ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOZYGOSITY MAPPING; CLINICAL ARTICLE; CONSANGUINITY; DNAH14 GENE; EDEMA; EMBRYO DEATH; EMBRYONIC LETHALITY; FETUS HYDROPS; FZD6 GENE; GALNT14 GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC PROCEDURES; HUMAN; LETHAL GENE; MYOM1 GENE; PHENOTYPE; PIGC GENE; THSD1 GENE; UBN1 GENE; WHOLE EXOME SEQUENCING; CHROMOSOMAL MAPPING; DNA SEQUENCE; EXOME; FAMILY; HOMOZYGOTE; MAMMALIAN EMBRYO; MUTATION; PEDIGREE;

CHROMOSOME MAPPING; CONSANGUINITY; EMBRYO, MAMMALIAN; EXOME; FAMILY; GENES, LETHAL; HOMOZYGOTE; HUMANS; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84938910188     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-015-0681-6     Document Type: Article

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