ライフサイエンスコーパス: allele frequency

1 ch detected subclonal mutations down to 0.3% allele frequency.

2 ignaling or to kill cells harboring a high K-allele frequency.

3 imited range of tumor read depth and variant allele frequency.

4 ionship between CWD prevalence and PRNP 132L allele frequency.

5 patients at levels as low as 0.002% variant allele frequency.

6 age, education, ethnicity/race, and APOE-e4 allele frequency.

7 ed to variants with a wide spectrum of minor allele frequencies.

8 cleotide polymorphisms (SNPs) with low minor allele frequencies.

9 ore useful than those that are based only on allele frequencies.

10 sequencing data based on Log R ratios and B-allele frequencies.

11 of candidate variants at extremely low minor allele frequencies.

12 well for genetic loci with very small minor allele frequencies.

13 drift or selection dominate the dynamics of allele frequencies.

14 tial processes to estimate ancestry-specific allele frequencies.

15 ion of population structure from genome-wide allele frequencies.

16 SNV and indel detection at very low variant allele frequencies.

17 provide only summary statistics or aggregate allele frequencies.

18 Audit and Research, Tayside Scotland), minor allele frequency (=0.02), and randomized clinical trial

19 African-American sample (rs149133391, minor allele frequency = 0.02, P = 9.1 x 10(-3)), while the 1q

20 (beta = 0.44, P-value = 1.87 x 10(-8), minor allele frequency = 0.12), within the gene ARHGEF12.

21 de variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.4

22 nge of the initiator methionine codon (minor-allele frequency = 0.43) to threonine.

23 2L11 gene associated with UACR: rs116907128 (allele frequency =0.14; P=1.5 x 10(-7)) and rs586283 (C

24 uency =0.14; P=1.5 x 10(-7)) and rs586283 (C allele frequency =0.35; P=4.2 x 10(-7)).

25 s common among full-heritage Pima Indians (A allele frequency =0.54) but is monomorphic in the 1000 G

26 ention Trial Evaluating Rosuvastatin], minor allele frequency=0.018) was used to replicate the associ

27 =0.27), rs5442 in GNB3 (P=7.0x10(-10); minor allele frequency=0.05), and rs1800407 in OCA2 (P=3.4x10(

28 , and rs1800407 in OCA2 (P=3.4x10(-8); minor allele frequency=0.05).

29 ow that carriers of a rare missense variant (allele frequency=0.24%) within CHRNA4, encoding an R336C

30 rs201259422 in TSPAN10 (P=4.4x10(-9); minor allele frequency=0.27), rs5442 in GNB3 (P=7.0x10(-10); m

31 rs7926971 in TEAD1 (P=3.1x10(-) (11); minor allele frequency=0.43), rs201259422 in TSPAN10 (P=4.4x10

32 le-nucleotide polymorphisms (SNP) with minor allele frequency 1%) to general cognitive function in a

33 ng mutations including JAK2V617F at very low allele frequency, 1 homozygous SH2B3 mutation, 1 MPLS505

34 at exome-wide significance (cumulative minor allele frequency, 1.1%; beta=-3.30; P=5.0x10(-7)).

35 ed with lower diastolic BP (cumulative minor allele frequency, 1.3%; beta=-3.20; P=4.1x10(-6)) and we

36 sk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0x10(-4))

37 mericans, the X-linked G6PD G202A variant (T-allele frequency 11%) was associated with an absolute de

38 dentified in CYP2R1 the low-frequency (minor allele frequency = 2.5%) synonymous coding variant g.149

39 4; P=4.2x10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0x10(-8))

40 ariant, which is common among Samoans (minor allele frequency = 26%) but extremely rare in other popu

41 variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P

42 The intronic DNMT3B rs910083-C allele (frequency=44-77%) was associated with increased

43 tween the genes LINC01142 and METTL11B (risk allele frequency = 8.1%; odds ratio [OR]: 1.26; p = 3.1

44 from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5x10(-7)).

45 Finally, we considered the transition of allele frequencies across geographic space and suggest t

46 The distribution of allele frequencies across populations suggests a northwa

47 The pattern was similar for variant allele frequencies across the samples, which was minimal

48 discover loci displaying steep gradients in allele frequency across geographical distance and betwee

49 ically independent from expression level and allele frequency, additive, applicable to multiallelic v

50 For detecting mutations with allele frequency (AF) 1% in 4.6 Mb-sized genome, the sen

51 pulation by ultradeep sequencing, down to an allele frequency (AF) of 0.1%.

52 The allele frequency (AF) spectrum for deletions is enriched

53 heterozygote frequencies among populations (allele frequencies: African = 0.0016; East Asian = 0.004

54 al cell-free DNA, as measured by TP53 mutant allele frequency, also affected assay sensitivity.

55 ection is surprisingly effective in altering allele frequencies among many different SNPs that share

56 arboring variants with highly differentiated allele frequencies among the ancestral populations.

57 The allele frequency among the patients with advanced JOAG (

58 Allele frequency analyses suggest that standing variatio

59 we found no significant associations between allele frequencies and AVM occurrence, but rs9298506, ne

60 The SNP allele frequencies and clinical severity differed betwee

61 Furthermore, a comparison of risk allele frequencies and genetic risk scores suggested tha

62 leotide polymorphisms (SNPs) with high minor allele frequencies and in SNPs located in the predicted

63 However, higher risk allele frequencies and population-attributable risk perc

64 mple of multilocus genotypes from which both allele frequencies and relatedness must be deduced.

65 The new tests detect differences in allele frequencies and seem able to uncover additional g

66 ion with low nucleotide diversity, divergent allele frequencies and the most private alleles, and obs

67 hm and applying continuous approximations to allele frequencies and transition probabilities.

68 ygenomic samples and simultaneously estimate allele frequency and COI.

69 ly accurate and strongly agree with expected allele frequency and crossover number.

70 dentify a time-series trend in non-reference allele frequency and detect novel variants that have not

71 etic architecture of complex traits, such as allele frequency and effect size.

72 nts and a negative correlation between minor allele frequency and selection coefficients.

73 VDR-binding regions that had been matched in allele frequency and were independent with respect to li

74 rtitioning heritability by chromosome, minor allele frequency, and functional annotations and to test

75 risons of sequence diversity, recombination, allele frequency, and selective pressures.

76 genotypes for common SNPs where their minor allele frequencies are quite large.

77 allowed us to detect mutations with variant allele frequencies as low as 0.001.

78 ads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase i

79 studies indicated that mutations present at allele frequencies as low as 0.12% are detectable.

80 Furthermore, analysis of minor allele frequencies at individual FIV genome sites reveal

81 olution Melting (qHRM) methods for measuring allele frequencies at known SNP loci in pooled DNA sampl

82 ver, in the subgroup of non-Hispanic whites, allele frequencies at the TMCO1 locus were statistically

83 log R ratio (LRR) of signal intensity, and B allele frequency (BAF).

84 Combining both local ancestry and allele frequency based analyses, we identify a tripartit

85 total of 42 unique or rare (population minor allele frequency below 1%) nonsynonymous genetic variant

86 the 1000 Genomes database and having a minor allele frequency below 2% in our AJ sample.

87 ls, there were no significant differences in allele frequencies between affecteds and controls (C/TTC

88 in linkage disequilibrium (LD) structure and allele frequencies between ancestry groups, studies in a

89 males are relevant, because a difference in allele frequency between males and females may indicate

90 mators become even more biased when they use allele frequencies calculated from a sample by omitting

91 imators become severely biased when they use allele frequencies calculated from an extremely small sa

92 For the allele frequency calculation, the implementation in the

93 uch as Hispanic Americans, ancestry-specific allele frequencies can inform the design of a replicatio

94 n of even the most basic parameters, such as allele frequencies, challenging.

95 netic diversity, site frequency spectra, and allele-frequency change support a selective sweep center

96 replacing another but instead requires small allele frequency changes at many loci.

97 to data from the UK10K Project, SDS reflects allele frequency changes in the ancestors of modern Brit

98 ic data in a simple statistic (DAnc) to time allele frequency changes, and investigate the role of dr

99 ombined analysis showed a 2-fold lower minor allele frequency compared with controls (1.11% for MS an

100 All were identified at low variant allele frequency consistent with somatic mosaic etiology

101 tistically significant change in average SNP allele frequency corrected for latitude.

102 ith eQTL data from the GTEx project and with allele frequency data from the 1000 Genomes project to i

103 mate allele frequencies or requires external allele frequency data which may not available.

104 iant-specific prior information derived from allele frequency databases, consequence prediction algor

105 tion, derived from a matrix of mean pairwise allele frequency differences between GWAS, and implement

106 eutral demographic events can create similar allele frequency differences between populations.

107 e common FLT3 variant rs76428106 has a large allele frequency differential between African and non-Af

108 the ribosomal DNA region follows a U-shaped allele frequency distribution in each species, similar t

109 genomes for genomic call rate, genotype and allele frequency distribution, variant density across th

110 By analyzing mutant allele frequency distributions in tumors, we found that

111 link differences between the shapes of these allele frequency distributions to the two species' contr

112 considering effects of polygenicity, causal allele frequency divergence, and heritability.

113 ESR1 mutation allele frequency does not show a consistent pattern of i

114 ternative mating strategy model and analysed allele frequency dynamics using time series analyses.

115 erozygote phenotype and its consequences for allele frequency dynamics.

116 r, our method allows for adjustment based on allele frequency (e.g. a different set of criteria to de

117 ta -1.71 (SE 0.25), P=1.57 x 10(-11), effect allele frequency (EAF) 0.006); and rs145556679 (triglyce

118 ants in Europeans, differences in the effect allele frequency, effect size and the linkage disequilib

119 We call our algorithm Ancestry Specific Allele Frequency Estimation (ASAFE).

120 al realignments on the fly for more accurate allele frequency estimation.

121 ed to assure optimal imputation accuracy and allele frequency estimation.

122 ing explicit spatial probabilistic models of allele frequency evolution.

123 lift, loci can exhibit conspicuous seasonal allele-frequency fluctuations, but often fluctuations ma

124 n EM algorithm to estimate ancestry-specific allele frequencies for a bi-allelic marker given genotyp

125 of risk alleles and the worldwide pattern of allele frequencies for some diseases may be better expla

126 sCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control sub

127 The overall risk allele frequency for these SNPs ranged from 12% to 35%.

128 and a P-value of 4.63 x 10 (-) (8) The risk allele frequency for this SNP is zero in European-ancest

129 y for a new set of individuals using cluster allele frequencies from a reference set of individuals.

130 o correctly estimate individual ancestry and allele frequencies from a set of related individuals.

131 S), a method to infer very recent changes in allele frequencies from contemporary genome sequences.

132 d populations, taking into account worldwide allele frequencies, gene-gene interactions, and contrast

133 many factors (e.g., linkage disequilibrium, allele frequencies, genetic architecture).

134 . annotations, functional prediction scores, allele frequencies, genotypes and phenotypes) to determi

135 tients) had CHIP mutations that decreased in allele frequency, giving way to expansion of a distinct

136 netic diversity before extinction, and their allele frequencies gradually diverged from those in cont

137 s and insertion-deletion variants with minor allele frequencies >1% and imputation quality scores >0.

138 ion substructure using variants with a minor allele frequency > 2% (correlation = 0.89 with the PCA c

139 Common variants (minor allele frequency > 5%) were analysed individually.

140 n 9.8 million common genetic variants (minor allele frequency >/= 1%) were analyzed to test for assoc

141 Associations between polymorphisms (minor allele frequency >/= 15%) in 4 genes and seizure outcome

142 WAS) including low-frequency variants (minor allele frequency >/=0.005) for BUA and VOS using a disco

143 ant panels, which covers 99.0% SNVs of minor allele frequency >/=0.1%, and its value for identifying

144 mponents method with variants having a minor allele frequency >/=1%.

145 h 76,355 SNPs with call rates >85% and minor allele frequency >/=1.5% were used in genome wide associ

146 f monomorphic variants, 32,827 common (minor allele frequency >0.01) and 68,770 rare variants were an

147 >50 loci at which common variants with minor allele frequency >5% are associated with kidney function

148 Common variants (minor allele frequency >5%) were analyzed individually.

149 CTA-GREML analyses, using common SNPs (minor allele frequency>0.01), indicated significant SNP-based

150 close to 60 common SNPs (minor allele frequency>0.05) associated with CAD risk and reac

151 approximately 170 000 common variants (minor allele frequency, >/=1%; statistical significance, P</=2

152 on was mainly accounted for by common (minor allele frequency, >/=5%) variants (20.4%; 95% confidence

153 Additionally, population allele frequencies have been shown to change due to envi

154 ate SNPs, mostly related to flight, in which allele frequencies have changed more than the neutral ex

155 s possible to identify genomic regions where allele-frequencies have diverged during selection.

156 amination of variants across the spectrum of allele frequency highlights independent association sign

157 About 43,000 variants showed enriched allele frequencies in AGRP, consistent with drift.

158 3 promoter repeat in Caucasians, and similar allele frequencies in autism families.

159 often sought by association studies in which allele frequencies in case subjects are contrasted with

160 upstream region of miR-15a-16 displayed high allele frequencies in high-weight commercial broiler lin

161 etic Variants (GGV) browser provides maps of allele frequencies in populations distributed across the

162 ave implications for interpreting changes in allele frequencies in populations.

163 Moreover, outlier allele frequencies in SW Finland resemble those in fragm

164 At outlier loci, allele frequencies in SW Finland shifted in the same dir

165 This analysis measures allele frequencies in the extreme pools, enabling discov

166 ion in the DGRP that is revealed by changing allele frequencies in the outbred populations derived fr

167 Ancient genomes provide snapshots of allele frequencies in the past and can help address this

168 nverted duplication exhibits steep clines in allele frequency in a natural hybrid zone, showing that

169 f additional mutations or increasing variant allele frequency in K/NRAS, RUNX1, IDH2, or NPM1 associa

170 ependent reversions indicated that reversion-allele frequency in metastatic sites is an important det

171 C mutation and increase of mutant BRAF V600E allele frequency in the circulating tumor DNA of a patie

172 Risk allele frequency in whites (0.43) was greater than in Ch

173 We investigated MTHFR C677T genotypes and alleles frequencies in primary glaucoma [primary open an

174 -associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effect

175 Analysis of variant allele frequencies indicated a decrease of major mutatio

176 Partitioning heritability by minor allele frequency indicated that the variance explained w

177 hat the observed distribution of deleterious allele frequencies is consistent with the OOA dispersal,

178 ly significant excess of variants with minor allele frequency less than 0.05 at both high and low ext

179 tions with specified characteristics such as allele frequencies, linkage disequilibrium etc., is an i

180 g pathogenic from rare neutral variants with allele frequencies <0.5%.

181 and seven very rare polymorphisms with minor allele frequencies <1%, two of which are novel variants.

182 erately frequent variants in GRK5 with minor allele frequencies <10%, and seven very rare polymorphis

183 er series of protective rare variants (minor allele frequency < 0.01) via gene-wide aggregation testi

184 of which occur rarely in populations (minor allele frequency < 0.01).

185 The two variants were rare (minor allele frequency < 0.1%) in 6271 healthy controls and ab

186 rols) from the UK, we found that rare (minor allele frequency < 0.1%) variant association signal was

187 We grouped low-frequency variants (minor allele frequency </= 5%) by a genome-wide sliding window

188 There were 224 (59%) with >/=1 rare variant (allele frequency </=0.02%).

189 Rare and low-frequency variants (minor allele frequency </=5%) were analyzed by three types of

190 riants in total, of which 27 were rare (ExAc allele frequency <0.002).

191 recurrently affected by rare variants (minor allele frequency <0.01) with potentially damaging effect

192 One SNV with a minor allele frequency <0.01, (rs3025380 at DBH) was genome-wi

193 491 [74%] white), a total of 122 rare (minor allele frequency <0.5%) nonsynonymous and splice-site va

194 members, filtering for genetic variants with allele frequency <1% predicted to alter protein structur

195 Communities) Study cohort to focus on rare (allele frequency <1%) potentially deleterious (nonsynony

196 variant of unknown significance with a minor allele frequency <1:20 000.

197 a total of 729 666 variant sites with minor allele frequency <5%, including 17 263 null variants and

198 and gene-based tests of rare variants (minor allele frequency, <1%; approximately 17 000 genes; stati

199 Common coding variants with minor allele frequencies (MAF) >1% that were identified were p

200 Of the variants, 96% had minor allele frequencies (MAF) < 0.1%, indicating their rarity

201 ols, interrogating 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 million low-frequ

202 0922-E270K and rs143571823-T947M) with minor allele frequency (MAF) < 1% and 1 common variant (rs2298

203 17 new associations, including 6 rare (minor allele frequency (MAF) < 1%) or low-frequency (1% < MAF

204 ls to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated

205 eukocyte antigens (HLAs): rs557011[T] (minor allele frequency (MAF) = 40.2%), associated with M. tube

206 ow-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF

207 ere initially identified using minimum minor allele frequency (MAF) of 5%.

208 Using a minor allele frequency (MAF) threshold of 2%, we identified 18

209 The minor allele frequency (MAF) was greater for MUC5B rs35705950

210 ave been detected by analyzing common [minor allele frequency (MAF)>0.05] variants in increasingly la

211 hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with

212 describes how heritability varies with minor allele frequency (MAF), linkage disequilibrium (LD) and

213 ssion with individual common variants (minor allele frequency (MAF)0.05), aggregate low frequency var

214 ily (ERF) study, we identified a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (

215 .38 x 10(-10), odds ratio (OR) = 0.68, minor allele frequency (MAF)cases = 0.0059, MAFcontrols = 0.00

216 sociation with diabetes risk (combined minor allele frequency [MAF] 0.22%; odds ratio [OR] 2.02; 95%

217 th CRC at 1p36.2 marked by rs72647484 (minor allele frequency [MAF] = 0.09) near CDC42 and WNT4 (P =

218 issense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2 x 10(-10) for hemog

219 variants, 10 are commonly distributed (minor allele frequency, MAF > 5%) in Europeans, with comparabl

220 e nucleotide polymorphisms (SNPs) with minor allele frequencies (MAFs) > 0.05 were found among the 51

221 We show that SNPs with minor allele frequencies (MAFs) of 0.1-1% explain a substantia

222 een described, the most direct of which uses allele frequencies measured at two or more time points.

223 tablished risk loci driven by differences in allele frequency (NOD2) or effect size (TNFSF15 and ATG1

224 ion (EM) algorithm to estimate non-reference allele frequency (NRAF) and identify SNVs in heterogeneo

225 are matched to a set of query SNPs based on allele frequency, number of SNPs in LD, distance to near

226 ere found in the general population but with allele frequencies of <1:30,000.

227 The results indicated the genotype and allele frequencies of -842G > C and -667C > T were both

228 gorillas and one in orangutans with derived allele frequencies of 0.01, 0.26 and 0.29, respectively.

229 e: To investigate the expression and variant allele frequencies of BTNL2, a candidate gene for chromo

230 Cellular allele frequencies of examined L1 insertions indicated h

231 le maintaining the ability to correctly call allele frequencies of known single nucleotide variants.

232 Cellular or population allele frequencies of L1s were assessed by droplet digit

233 have a higher mutation load due to increased allele frequencies of nearly neutral variants that are r

234 loci in a network is highly dependent on the allele frequencies of the interacting loci.

235 Despite ethnic differences in allele frequencies of variants in dopaminergic genes ass

236 gle-nucleotide variations occurring at minor allele frequency of >/= 0.01% in the population.

237 and biallelic EIF2AK4 variants with a minor allele frequency of <1:10 000 in control data sets and p

238 .Gln376Arg variant, which has a global minor allele frequency of 0.0005, conferred a 3.61-fold increa

239 008 with C or T variation, which has a minor allele frequency of 0.21) from a human database (n=60 70

240 ssense substitution, c.1111G>A (p.Ala371Thr; allele frequency of 0.28% in Europeans), and a nonsense

241 helial lipase (LIPG) gene, occurring with an allele frequency of 1% in the general population, which

242 This variant, which has an allele frequency of 17% in the Mexican population but is

243 ), and TT in 85 patients (10%), with a minor allele frequency of 30%.

244 isease model with 100% penetrance and a risk allele frequency of 5%.

245 id neoplasm samples were available, the mean allele frequency of CHIP mutations had expanded by the t

246 AA genotype and A allele frequency of IL-18RAP/rs2058660 was significantly

247 The decrease in the variant allele frequency of major mutations was more significant

248 The allele frequency of R415Q is not significantly higher in

249 The C allele frequency of rs1137070 was significantly higher i

250 The minor allele frequency of the Muc5B rs35705950 promoter polymo

251 ession of average heterozygosity and average allele frequency of the risk alleles with distance from

252 e bioinformatics tools 'expanding ploidy and allele frequency on nested subpopulations' (EXPANDS) and

253 ChIP to correct for the effect of background allele frequency on the observed ChIP-seq read counts.

254 e effects of different cutoffs for the minor allele frequency on the performance of the approach.

255 relies on monogenomic infections to estimate allele frequencies or requires external allele frequency

256 There were no clear clines in allele frequency or genetic diversity as would be expect

257 l selection causing either recent changes in allele frequency or geographical variation in frequency,

258 ple sizes, interaction effect estimates, and allele frequencies; outcomes were type 2 diabetes incide

259 he differences in linkage disequilibrium and allele frequency patterns across ethnic groups may incre

260 es of adiposity in Pima Indians, where the G allele (frequency: Pima Indians = 0.60, Europeans <0.01)

261 We enumerated 49,138 rare (<1% minor allele frequency) pLoF mutations.

262 cipal component analysis, genetic diversity, allele frequency, polymorphic information content, and p

263 es the calculation of subpopulation specific allele frequency possible, which may shed light on selec

264 isk for ARIA-H associated with APOE epsilon4 allele frequency, pre-existing ARIA-H, treatment with ba

265 were determined by filtering based on minor allele frequency, predicted pathogenicity, and segregati

266 with other approaches (thresholding of minor allele frequencies; probabilistic clustering of reads).

267 Allele frequencies ranged between 1% and 3%.

268 y of the predicted somatic variants (variant allele frequencies ranging from 100% to 5%), we observed

269 oefficient in females and the male to female allele frequency ratio are computed, and used for statis

270 hine learning method and combines these with allele frequency, regulatory sequences, chromosomal topo

271 n ideal world we would know population-level allele frequencies, releasing researchers to focus on ca

272 ts in a power-law distribution of the mutant allele frequencies reported by next-generation sequencin

273 , gene-drug interaction effect estimates and allele frequencies reported in the DPP for the rs8065082

274 some of the shared mutations detected at low allele frequencies represent highly motile clones that a

275 Analyses of iSNV and its allele frequency reveal that VP40 is the most conserved

276 nt selection for increased height has driven allele frequency shifts across most of the genome.

277 can be measured from the analysis of derived allele frequency spectra (DAF), but this approach is sen

278 and gene flow, we fit models using the joint allele frequency spectrum and validated them using indep

279 We show that the allele frequency spectrum of high-scoring SVs is strongl

280 iously observed in the literature across the allele frequency spectrum, including rare large effect (

281 abetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis

282 suitable for detecting CNVs across the whole allele frequency spectrum.

283 oach to correct this bias using LD and minor allele frequency stratified inference (LDMS).

284 s study, the consistency of increase in 132L allele frequency suggests pathogen-mediated selection ha

285 , and were not related to apolipoprotein E-4 allele frequency.Supplementation with n-3 FA for 6 mo wa

286 out extremely rare variants with lower minor allele frequencies than missense variants.

287 with CWD for at least 30-50 y exhibited 132L allele frequencies that were on average twice as great (

288 Rare variants (<1% minor allele frequency) that segregated with disease were iden

289 on the sample size, the (unknown) population allele frequencies, the actual relatedness and the estim

290 ontagious, fatal prion disease, and compared allele frequency to populations with no history of expos

291 ographic histories and without specifying an allele frequency trajectory in advance.

292 Q or GNA11 in all tested samples, at variant allele frequencies (VAF) ranging from 3% to 33%.

293 equencing with whole-genome discovery of low-allele frequency variants, to an extent that is not poss

294 associate with CKD in Hispanics/Latinos, but allele frequency varies by Hispanic/Latino background/an

295 ssociated nominally with BCG osteitis; minor allele frequency was 0.215 in 130 BCG osteitis cases and

296 bone marrow transplantation, different minor allele frequencies were observed between plasma and leuk

297 cancer cell lines with increased KRAS mutant allele frequency were more sensitive to MAP kinase inhib

298 ect data, and well-imputed SNPs (>0.01 minor allele frequency) were analysed for association with BAV

299 broad range of read depths and non-reference allele frequencies with high sensitivity and specificity

300 Genomes Project, we show that the shifts in allele frequency within Europe and between Europe and Af