Open AccessAutozygome maps dispensable DNA and reveals potential selective bias against nullizygosity
Author(s) -
Hanif Khalak,
Salma M. Wakil,
Faiqa Imtiaz,
Khushnooda Ramzan,
Batoul Baz,
Abeer AlMostafa,
Samya Hagos,
Fatema Alzahrani,
Nada Abu-Dhaim,
Leen Abu Safieh,
Latifa AlJbali,
Mohamed H. AlHamed,
Dorota Monies,
Mohammed A. Aldahmesh,
Mohammed S. AlDosari,
Namik Kaya,
Hanan E. Shamseldin,
Ranad Shaheen,
May Alrashed,
Mais Hashem,
Nada Al Tassan,
Brian F. Meyer,
Anas M. Alazami,
Fowzan S. Alkuraya
Publication year - 2012
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2011.28
Subject(s) - haploinsufficiency , biology , genetics , offspring , copy number variation , mendelian inheritance , dna , genome , computational biology , gene , phenotype , pregnancy
Copy number variants are an important source of human genome diversity. The widespread distribution of hemizygous copy number variants in the DNA of healthy humans suggests that haploinsufficiency is largely tolerated. However, little is known about the extent to which corresponding nullizygosity (two-copy deletion) is similarly tolerated.
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