Table 1
Genetic load summary statistics
Category (N SNV)Ratio of derived allele counts Ratio of homozygous-derived genotype counts Ratio of derived alleles in fixed sites Derived alleles from fixed sitesRatio of derived alleles per SNV Rxy
Derived alleles (49,631)1.002 (0.004)1.156 (0.008)4.413 (0.301)GI:17.0% CEU:3.9%1.484 (0.009)1.004 (0.008)
Synonymous (20,693)1.006 (0.005)1.156 (0.010)4.733 (0.420)GI:18.2% CEU:3.9%1.420 (0.011)1.013 (0.012)
NCE+UTR (4919)1.006 (0.012)1.168 (0.022)5.268 (0.900)GI:17.9% CEU:3.4%1.466 (0.023)1.013 (0.026)
Missense (23,582)0.996 (0.006)1.151 (0.012)3.899 (0.377)GI:15.5% CEU:4.0%1.550 (0.013)0.993 (0.013)
LoF (400)1.009 (0.063)1.296 (0.131)2.500 (2.840)GI:9.3% CEU:3.8%1.625 (0.115)0.991 (0.104)
LoFa (278)1.045 (0.099)1.457 (0.286)bGI:0% CEU:4.4%2.026 (0.194)1.064 (0.142)
GERP <2 (29,183)0.999 (0.005)1.140 (0.009)4.293 (0.291)GI:18.4% CEU:4.0%1.414 (0.009)0.999 (0.010)
GERP >2:<4 (9853)1.001 (0.010)1.169 (0.018)4.725 (0.757)GI:15.3% CEU:3.1%1.517 (0.019)1.002 (0.019)
GERP >4:<6 (10,211)1.011 (0.011)1.222 (0.022)4.659 (0.919)GI:12.7% CEU:2.8%1.697 (0.023)1.021 (0.021)
GERP >6 (353)1.069 (0.060)1.244 (0.093)bGI:8.6% CEU:0%1.888 (0.130)1.127 (0.113)
Category (N SNV)Ratio of derived allele counts Ratio of homozygous-derived genotype counts Ratio of derived alleles in fixed sites Derived alleles from fixed sitesRatio of derived alleles per SNV Rxy
Derived alleles (49,631)1.002 (0.004)1.156 (0.008)4.413 (0.301)GI:17.0% CEU:3.9%1.484 (0.009)1.004 (0.008)
Synonymous (20,693)1.006 (0.005)1.156 (0.010)4.733 (0.420)GI:18.2% CEU:3.9%1.420 (0.011)1.013 (0.012)
NCE+UTR (4919)1.006 (0.012)1.168 (0.022)5.268 (0.900)GI:17.9% CEU:3.4%1.466 (0.023)1.013 (0.026)
Missense (23,582)0.996 (0.006)1.151 (0.012)3.899 (0.377)GI:15.5% CEU:4.0%1.550 (0.013)0.993 (0.013)
LoF (400)1.009 (0.063)1.296 (0.131)2.500 (2.840)GI:9.3% CEU:3.8%1.625 (0.115)0.991 (0.104)
LoFa (278)1.045 (0.099)1.457 (0.286)bGI:0% CEU:4.4%2.026 (0.194)1.064 (0.142)
GERP <2 (29,183)0.999 (0.005)1.140 (0.009)4.293 (0.291)GI:18.4% CEU:4.0%1.414 (0.009)0.999 (0.010)
GERP >2:<4 (9853)1.001 (0.010)1.169 (0.018)4.725 (0.757)GI:15.3% CEU:3.1%1.517 (0.019)1.002 (0.019)
GERP >4:<6 (10,211)1.011 (0.011)1.222 (0.022)4.659 (0.919)GI:12.7% CEU:2.8%1.697 (0.023)1.021 (0.021)
GERP >6 (353)1.069 (0.060)1.244 (0.093)bGI:8.6% CEU:0%1.888 (0.130)1.127 (0.113)

Comparisons between 18 Greenlandic Inuit (GI) and 18 Utah Residents (CEPH) with Northern and Western Ancestry (CEU) individuals using 93.047 SNP sites located in genic regions with full information for both populations. Ratios are the sum within GI divided by the sum within CEU. Standard errors are given in parentheses.

a

Unambiguous sites (sites where all possible functional annotations were LoF annotations).

b

Too few sites fall in this category to allow a meaningful result.

Table 1
Genetic load summary statistics
Category (N SNV)Ratio of derived allele counts Ratio of homozygous-derived genotype counts Ratio of derived alleles in fixed sites Derived alleles from fixed sitesRatio of derived alleles per SNV Rxy
Derived alleles (49,631)1.002 (0.004)1.156 (0.008)4.413 (0.301)GI:17.0% CEU:3.9%1.484 (0.009)1.004 (0.008)
Synonymous (20,693)1.006 (0.005)1.156 (0.010)4.733 (0.420)GI:18.2% CEU:3.9%1.420 (0.011)1.013 (0.012)
NCE+UTR (4919)1.006 (0.012)1.168 (0.022)5.268 (0.900)GI:17.9% CEU:3.4%1.466 (0.023)1.013 (0.026)
Missense (23,582)0.996 (0.006)1.151 (0.012)3.899 (0.377)GI:15.5% CEU:4.0%1.550 (0.013)0.993 (0.013)
LoF (400)1.009 (0.063)1.296 (0.131)2.500 (2.840)GI:9.3% CEU:3.8%1.625 (0.115)0.991 (0.104)
LoFa (278)1.045 (0.099)1.457 (0.286)bGI:0% CEU:4.4%2.026 (0.194)1.064 (0.142)
GERP <2 (29,183)0.999 (0.005)1.140 (0.009)4.293 (0.291)GI:18.4% CEU:4.0%1.414 (0.009)0.999 (0.010)
GERP >2:<4 (9853)1.001 (0.010)1.169 (0.018)4.725 (0.757)GI:15.3% CEU:3.1%1.517 (0.019)1.002 (0.019)
GERP >4:<6 (10,211)1.011 (0.011)1.222 (0.022)4.659 (0.919)GI:12.7% CEU:2.8%1.697 (0.023)1.021 (0.021)
GERP >6 (353)1.069 (0.060)1.244 (0.093)bGI:8.6% CEU:0%1.888 (0.130)1.127 (0.113)
Category (N SNV)Ratio of derived allele counts Ratio of homozygous-derived genotype counts Ratio of derived alleles in fixed sites Derived alleles from fixed sitesRatio of derived alleles per SNV Rxy
Derived alleles (49,631)1.002 (0.004)1.156 (0.008)4.413 (0.301)GI:17.0% CEU:3.9%1.484 (0.009)1.004 (0.008)
Synonymous (20,693)1.006 (0.005)1.156 (0.010)4.733 (0.420)GI:18.2% CEU:3.9%1.420 (0.011)1.013 (0.012)
NCE+UTR (4919)1.006 (0.012)1.168 (0.022)5.268 (0.900)GI:17.9% CEU:3.4%1.466 (0.023)1.013 (0.026)
Missense (23,582)0.996 (0.006)1.151 (0.012)3.899 (0.377)GI:15.5% CEU:4.0%1.550 (0.013)0.993 (0.013)
LoF (400)1.009 (0.063)1.296 (0.131)2.500 (2.840)GI:9.3% CEU:3.8%1.625 (0.115)0.991 (0.104)
LoFa (278)1.045 (0.099)1.457 (0.286)bGI:0% CEU:4.4%2.026 (0.194)1.064 (0.142)
GERP <2 (29,183)0.999 (0.005)1.140 (0.009)4.293 (0.291)GI:18.4% CEU:4.0%1.414 (0.009)0.999 (0.010)
GERP >2:<4 (9853)1.001 (0.010)1.169 (0.018)4.725 (0.757)GI:15.3% CEU:3.1%1.517 (0.019)1.002 (0.019)
GERP >4:<6 (10,211)1.011 (0.011)1.222 (0.022)4.659 (0.919)GI:12.7% CEU:2.8%1.697 (0.023)1.021 (0.021)
GERP >6 (353)1.069 (0.060)1.244 (0.093)bGI:8.6% CEU:0%1.888 (0.130)1.127 (0.113)

Comparisons between 18 Greenlandic Inuit (GI) and 18 Utah Residents (CEPH) with Northern and Western Ancestry (CEU) individuals using 93.047 SNP sites located in genic regions with full information for both populations. Ratios are the sum within GI divided by the sum within CEU. Standard errors are given in parentheses.

a

Unambiguous sites (sites where all possible functional annotations were LoF annotations).

b

Too few sites fall in this category to allow a meaningful result.

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