Table 1.

The Top Ten ROH Hotspots on Human Autosomes

Rank	Chr	Genomic Region (kb)			ROH Frequency			Content
		Begin	End	Length	Max	Mean	SD	miRNA	RefSeq Genes
1a	2	72,209	72,982	773	0.458	0.427	0.034	−	CYP26B1, EXOC6B, SPR
2	20	33,546	34,281	735	0.410	0.372	0.037	−	C20orf173, C20orf152, CEP250, CPNE1, EPB41L1, ERGIC3, FER1L4, LOC647979, NFS1, PHF20, RBM12, RBM39, ROMO1, SCAND1, SPAG4
3a	1	103,134	103,530	396	0.411	0.370	0.030	−	COL11A1b
4	9	125,357	125,762	405	0.394	0.367	0.023	−	DENND1A
5	10	73,578	74,430	852	0.384	0.362	0.021	−	ANAPC16, ASCC1, CBARA1, CCDC109A, DDIT4, DNAJB12, OIT3, PLA2G12B
6a	3	25,703	26,273	569	0.379	0.359	0.011	−	LOC285326, NGLY1, OXSM
7	5	44,604	45,448	843	0.393	0.355	0.023	−	HCN1, MRPS30
8	15	69,881	70,571	690	0.367	0.347	0.011	−	ARIH1, C15orf34, CELF6, GRAMD2, HEXA,cMYO9A, NR2E3, PARP6, PKM2, SENP8, TMEM202
9a	12	86,938	87,756	818	0.388	0.344	0.033	−	C12orf29, C12orf50, CEP290,dKITLG,eTMTC3
10a	4	33,305	34,259	954	0.378	0.343	0.018	−	−

The following abbreviations are used: Chr, chromosome; ROH, runs of homozygosity; Max, maximum; and miRNA, microRNA. Regions are ordered from top to bottom by decreasing worldwide mean ROH frequency. Genes in bold and underlined are associated with autosomal-dominant and autosomal-recessive diseases, respectively, in the OMIM database.

^aThese hotspots overlap regions identified in previous genomic surveys as probable targets of recent positive selection.^33,57,59,60

^bStickler syndrome (MIM 604481) and Marshall syndrome (MIM 154780).

^cTay-Sachs disease (MIM 272800).

^dSenior-Loken syndrome (MIM 610819), Joubert syndrome (MIM 610188), Leber congenital amaurosis (MIM 611755), Meckel syndrome (MIM 611134), and Bardet-Biedel syndrome (MIM 209900).

^eFamilial progressive hyperpigmentation (MIM 145250).