Article
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Genome biology - 3 Jun 2015
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
Abstract excerpt
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 development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive...
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