title: Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  We analyzed a cohort of first cousin unions to enrich for shared parental hemizygous events and tested their Mendelian inheritance in offspring.
  
  
  RESULTS
  Analysis of autozygous DNA blocks (autozygome) in the offspring not only proved an efficient method of mapping "dispensable" DNA but also revealed potential selective bias against the occurrence of nullizygous changes. This bias was not restricted to genic copy number variants and was not accounted for by a high rate of miscarriages.
  
  
  CONCLUSIONS
  The autozygome is an efficient way to map dispensable segments of DNA and may reveal selective bias against nullizygosity in healthy individuals.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Hanif G
authors.initials: HG
authors.lastname: Khalak
authors.forename: Salma M
authors.initials: SM
authors.lastname: Wakil
authors.forename: Faiqa
authors.initials: F
authors.lastname: Imtiaz
authors.forename: Khushnooda
authors.initials: K
authors.lastname: Ramzan
authors.forename: Batoul
authors.initials: B
authors.lastname: Baz
authors.forename: Abeer
authors.initials: A
authors.lastname: Almostafa
authors.forename: Samya
authors.initials: S
authors.lastname: Hagos
authors.forename: Fatema
authors.initials: F
authors.lastname: Alzahrani
authors.forename: Nada
authors.initials: N
authors.lastname: Abu-Dhaim
authors.forename: Leen
authors.initials: L
authors.lastname: Abu Safieh
authors.forename: Latifa
authors.initials: L
authors.lastname: Al-Jbali
authors.forename: Mohammed S
authors.initials: MS
authors.lastname: Al-Hamed
authors.forename: Dorota
authors.initials: D
authors.lastname: Monies
authors.forename: Mohammed
authors.initials: M
authors.lastname: Aldahmesh
authors.forename: Mohammed S
authors.initials: MS
authors.lastname: Al-Dosari
authors.forename: Namik
authors.initials: N
authors.lastname: Kaya
authors.forename: Hanan
authors.initials: H
authors.lastname: Shamseldin
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
authors.forename: May
authors.initials: M
authors.lastname: Al-Rashed
authors.forename: Mais
authors.initials: M
authors.lastname: Hashem
authors.forename: Nada
authors.initials: N
authors.lastname: Al-Tassan
authors.forename: Brian
authors.initials: B
authors.lastname: Meyer
authors.forename: Anas M
authors.initials: AM
authors.lastname: Alazami
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D015331:Cohort Studies; D003241:Consanguinity; D004247:DNA / Q000097:blood; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D015894:Genome, Human; D057898:Hemizygote; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D004247:DNA