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

BACKGROUND: Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human deve...

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Detalhes bibliográficos
Publicado no:Genome Biol
Main Authors: Shamseldin, Hanan E., Tulbah, Maha, Kurdi, Wesam, Nemer, Maha, Alsahan, Nada, Al Mardawi, Elham, Khalifa, Ola, Hashem, Amal, Kurdi, Ahmed, Babay, Zainab, Bubshait, Dalal K., Ibrahim, Niema, Abdulwahab, Firdous, Rahbeeni, Zuhair, Hashem, Mais, Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4491988/
https://ncbi.nlm.nih.gov/pubmed/26036949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-015-0681-6
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