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1 lows detection of variant alleles below 0.1% allele frequency.
2 ignaling or to kill cells harboring a high K-allele frequency.
3 ionship between CWD prevalence and PRNP 132L allele frequency.
4 patients at levels as low as 0.002% variant allele frequency.
5 TERT(-146C>T) mutations present at different allele frequencies.
6 ome data and on somatic SVs with low variant allele frequencies.
7 ient and allele age from time series data of allele frequencies.
8 reported variants that had implausibly high allele frequencies.
9 e SNVs are prevalent at both rare and common allele frequencies.
10 SNV and indel detection at very low variant allele frequencies.
11 provide only summary statistics or aggregate allele frequencies.
12 -wide significance level regardless of minor allele frequencies.
13 ling simulations, which models data based on allele frequencies.
14 frequency 0.017) and rs116245325 (p.L1034F, allele frequency 0.0007) were associated with higher BP
15 ile the minor allele of rs61757359 (p.G541S, allele frequency 0.003) was associated with lower BP (P=
16 479618 (p.E967K, gnomAD non-Finnish European allele frequency 0.017) and rs116245325 (p.L1034F, allel
18 Audit and Research, Tayside Scotland), minor allele frequency (=0.02), and randomized clinical trial
20 or allele of the lead SNP (rs13417783, minor allele frequency = 0.14) decreased DPN odds by 36% (odds
21 s common among full-heritage Pima Indians (A allele frequency =0.54) but is monomorphic in the 1000 G
22 ic father and the rare NKX2-5 variant (minor allele frequency, 0.0012) from the unaffected mother.
23 UK biobank, where rs77059055 in TPM1 (minor allele frequency, 0.023; odds ratio, 0.83; P=0.002) rema
25 ar filtration rate (rs58720902 at AQR, minor allele frequency=0.01, P=1.6x10(-8)) or urine albumin-to
26 ention Trial Evaluating Rosuvastatin], minor allele frequency=0.018) was used to replicate the associ
27 the TG response, we identified rs7350789-A (allele frequency=0.36), mapping to hepatic lipase (LIPC)
28 additional variant at PRNT (rs2422935, minor allele frequency=0.54, P=2.89x10(-8)) was significantly
29 le-nucleotide polymorphisms (SNP) with minor allele frequency 1%) to general cognitive function in a
30 ase-associated variants with relatively high allele frequency (1%-10%) in a nationwide Japanese cohor
32 s3211938 at CD36 was common in Blacks (minor allele frequency=10%), near monomorphic in European Amer
33 mericans, the X-linked G6PD G202A variant (T-allele frequency 11%) was associated with an absolute de
35 OR 1.62; 95% CI 1.32-1.98; P = 4.0 x 10(-6); allele frequency = 13.3%), but the polymorphism was asso
37 dentified in CYP2R1 the low-frequency (minor allele frequency = 2.5%) synonymous coding variant g.149
39 orms all imputation approaches for all minor allele frequencies; (4) GIGI-Pick gives the best selecti
41 ost frequent mutation was H1069Q (c.3207C>A; allele frequency: 46.9%), followed by P767P-fs (c.2304du
43 Finally, we considered the transition of allele frequencies across geographic space and suggest t
45 (42.6%, 19.7%), respectively, for which the allele frequency (AF) in the Japanese population was 2.2
46 NPD prevalence: 77%), the cumulative PTV/CNV allele frequency (AF) was 7.7% vs. 2.6% in control subje
48 en in Singaporean HCM (TNNI3:p.R79C, disease allele frequency [AF]=0.018; TNNT2:p.R286H, disease AF=0
49 heterozygote frequencies among populations (allele frequencies: African = 0.0016; East Asian = 0.004
50 can be cast as the difference between marker allele frequencies (AFs) estimated in each of the group
52 ection is surprisingly effective in altering allele frequencies among many different SNPs that share
54 quantitative trait loci (QTL) and differ in allele frequency among individuals that end diapause ear
57 opulation stratification depends not only on allele frequencies and environmental structure but also
58 e marks in geographic arrangements of common allele frequencies and gene-environment correlations.
59 vity and specificity measurements as well as allele frequencies and identified HLA alleles that are c
60 genotyping assay, which we used to determine allele frequencies and identify FcgammaR haplotypes in m
61 leotide polymorphisms (SNPs) with high minor allele frequencies and in SNPs located in the predicted
62 ow researchers to easily compute and compare allele frequencies and LD statistics of dbSNP catalogued
66 mergence tolerance probably due to low minor allele frequencies and presence of exceptions to the kno
67 ion with low nucleotide diversity, divergent allele frequencies and the most private alleles, and obs
70 ic filtering and prioritisation according to allele frequency and effect on protein and inheritance p
72 (serial monitoring of both KIT D816V variant allele frequency and NGS panels) to lend more diagnostic
74 tumor, and mutant peptides with high variant allele frequency and predicted high HLA-binding affinity
76 xtent to which they can annotate gene-names, allele frequencies, and variants having high impact on g
79 rved nucleotides, tended to have low derived allele frequency, and were depleted from promoters of es
80 wise fashion: mutant genes with high variant allele frequencies appear early in leukaemogenesis, and
81 mber of single cells and in cases where bulk allele frequencies are affected by copy number changes.
82 urate predictions than existing methods when allele frequencies are low, which is of clear advantage
84 emogenesis, and mutations with lower variant allele frequencies are thought to be acquired later(1-3)
86 t of genotyped dogs was used to estimate the allele frequency as between 0.07-0.1 in the UK LA popula
87 or complex traits because of large shifts in allele frequencies at hundreds of loci under selection.
88 variation in the population leads changes in allele frequencies at one time point to be predictive of
89 on-DS ALL case-case analyses, comparing risk allele frequencies at these and other established suscep
91 dology for the generation of a genome-wide B-allele frequency (BAF) signal profile from the reads and
93 The algorithm accepts genotype calls and 'B allele' frequencies (BAFs) from at least two samples der
97 Specifically, this tool implements a novel allele frequency-based feature selection algorithm, Lanc
98 researchers in using the LEI tool to develop allele frequency-based informative features to conduct a
102 total of 42 unique or rare (population minor allele frequency below 1%) nonsynonymous genetic variant
103 ls, there were no significant differences in allele frequencies between affecteds and controls (C/TTC
105 A genes were associated with large shifts in allele frequencies between catchments and in individual
107 ference was detected in MUC5B rs35705950 SNP allele frequency between bronchiectasis and healthy indi
111 data, which includes log R ratio (LRR) and B allele frequency, can be plotted against the reported CN
114 did not find strong evidence of directional allele frequency change or selection for Bd resistance g
115 o estimate what fraction of the variation in allele frequency change through time is driven by linked
119 omes from the genome-wide covariance between allele frequency changes observable from temporal genomi
120 and for short sleepers, the changes exceeded allele frequency changes that would be expected under ra
123 EI to leverage summary-level statistics from allele frequency data, thereby avoiding the many restric
125 iant-specific prior information derived from allele frequency databases, consequence prediction algor
126 ified cancer-associated loci that have large allele frequency differences across African populations.
127 n that can lead to the accumulation of large allele frequency differences between populations due to
129 election were identified using: (i) pairwise allele frequency differences; (ii) genome scan for overl
134 rence wheat genotype-phenotype map, explored allele frequency dynamics over time and fingerprinted 44
135 d selection has a large impact on short-term allele frequency dynamics that is readily distinguishabl
137 ants in Europeans, differences in the effect allele frequency, effect size and the linkage disequilib
138 e is calculated incorporating: i) population allele frequency estimates; ii) individual zygosity, det
139 lift, loci can exhibit conspicuous seasonal allele-frequency fluctuations, but often fluctuations ma
143 F(2) screen study to estimate the resistance allele frequency for Vip3Aa in H. zea populations in Tex
144 nabled accurate measurement of VAFs (variant-allele frequencies) for mutations, allowing the determin
147 s and insertion-deletion variants with minor allele frequencies >1% and imputation quality scores >0.
151 than seen in the general population, variant allele frequency > 0.3 of a deleterious allele in a know
152 almost 7 million genetic variants with minor allele frequency > 5% and identified one single linkage
153 Associations between polymorphisms (minor allele frequency >/= 15%) in 4 genes and seizure outcome
154 WAS) including low-frequency variants (minor allele frequency >/=0.005) for BUA and VOS using a disco
157 zard ratio associated with CHIP with variant allele frequency >0.1: 1.48 [95% CI, 1.13-1.94]; P=0.005
158 [95% 1.10-1.68]; P=0.004; CHIP with variant allele frequency >0.1: odds ratio, 1.40 [95% CI, 1.10-1.
159 % CI, 1.23-2.44]; P=0.001; CHIP with variant allele frequency >0.1: odds ratio, 1.91 [95% CI, 1.30-2.
160 bolite pairs (p value < 1.2 x 10(-10), minor allele frequency >= 1%, proportion of variance explained
166 ecific rare variant, rs72725854 (A>G/T) (~6% allele frequency) has been associated with a ~2-fold inc
167 Parkinson's disease had significantly higher allele frequencies in a combined cohort of Japan and Tai
168 iptions of short-term evolutionary change in allele frequencies in a natural population to date.
169 the genome into three hidden states based on allele frequencies in genomic data: a symmetric state (s
171 the sexes, whereas tests for the equality of allele frequencies in the sexes assume Hardy-Weinberg eq
172 -Weinberg equilibrium assume the equality of allele frequencies in the sexes, whereas tests for the e
175 f additional mutations or increasing variant allele frequency in K/NRAS, RUNX1, IDH2, or NPM1 associa
176 ependent reversions indicated that reversion-allele frequency in metastatic sites is an important det
177 on between SSc prevalence and HLA-DPB1*13:01 allele frequency in multiple populations was observed (r
178 rediction method to calculate initial mutant allele frequency in tissue biopsy and blood samples with
180 stimator of Independence (LEI) that utilizes allele frequency information to prioritize the most info
181 of approximately 9,000 subclonal mutations (allele frequencies <0.1%); of these, approximately 8,000
183 g two rare variants (European ancestry minor allele frequency < 0.01, at 3p21.31 and 8p12), were sign
184 ced for the identification of rare variants (allele frequency < 0.05) in 16.9 kB of SERPINA1.Measurem
185 heteroplasmies (Phred score > 10,000, minor allele frequency < 0.5, number of mutant reads > 1).
189 ssociated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5
190 nts, is capable of SNV detection at very low allele frequency (<1%), and detects SNVs with high sensi
191 hnic groups, BAG3 rs17617337 was rare (minor allele frequencies<0.05) in Asian and African ancestry p
192 cy functional protein-coding variants (minor allele frequency, <=5%) measured by an exome array were
193 te-risk genes, particularly those with minor allele frequencies (MAF) of < 30%, have not been identif
194 e-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) > 0.1% and imputation quality sco
195 oni correction, rs505922 (beta: -6.5% [minor allele frequency (MAF) 0.32, P = 3.3 x 10(-8)]) located
196 significant association (rs146350366, minor allele frequency (MAF) 1.2%, P = 3.2 x 10(-8), odds rati
197 the tissue adjacent to the cartilage [mutant allele frequency (MAF) 6-8%], and were enriched in endot
199 , rs9998811, rs7696092 and rs13145758 (minor allele frequency (MAF) = 25-44%; P < 3 x 10(-14)) of sol
201 effect size increases with decreasing minor allele frequency (MAF) and linkage disequilibrium (LD) c
203 e, we develop a method to estimate the minor allele frequency (MAF) dependence of SNP effect sizes.
204 permutation threshold is influenced by minor allele frequency (MAF) of the SNPs, and by the number of
205 ously unreported variants had distinct minor allele frequency (MAF) spectra between people of Japanes
206 describes how heritability varies with minor allele frequency (MAF), linkage disequilibrium (LD) and
207 ily (ERF) study, we identified a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (
208 sociation with diabetes risk (combined minor allele frequency [MAF] 0.22%; odds ratio [OR] 2.02; 95%
209 studies, the 3q13.33 locus (rs9831894; minor allele frequency [MAF] = 0.40) was associated with DLBCL
210 mutation in MEPE, p.(Lys70IlefsTer26, minor allele frequency [MAF] = 0.8%), was associated with decr
213 On the other hand, incorrectly specified allele frequencies may result in substantial bias in est
214 ypes using WES variants strictly filtered on allele frequency, mutation consequence, and evidence of
218 SVclone accurately determines the variant allele frequencies of both SV breakends, then simultaneo
220 vors of WNS, and found significant shifts in allele frequencies of genes associated with regulating a
221 We measured the corresponding changes in the allele frequencies of genomic variants responding to art
222 hole-genome sequencing data by utilizing the allele frequencies of heterozygous single nucleotide pol
223 le maintaining the ability to correctly call allele frequencies of known single nucleotide variants.
225 el associations of rare variants (with minor allele frequencies of less than 0.5%) in 4 genes at exom
227 re-specify the patterns of clusters by minor allele frequencies of SNPs between cases and controls, a
228 lk analysis can only provide average variant allele frequencies of the targeted genes across all samp
233 estimate specimen tumor purity based on the allele frequencies of variants detected in high-depth, t
234 enomics-classification, (2) appeared with an allele frequency of <1:10.000, and (3) segregated with D
237 hisms (SNPs) were discovered using a minimum allele frequency of 1% across the entire genome through
238 helial lipase (LIPG) gene, occurring with an allele frequency of 1% in the general population, which
241 al agenesis patients revealed a higher minor allele frequency of a SNP 3' of the GATA6 coding sequenc
244 BigTop uses the z-axis to display minor allele frequency of each SNP, allowing for the identific
245 show an inverse correlation of the worldwide allele frequency of functional KIR2DS4 with that of HLA-
246 3 parts of the study that establish (1) the allele frequency of germline variants (n = 100), (2) the
247 tumours revealed an extreme shift in variant allele frequency of somatic variants, suggesting that ce
248 a statistical test to determine whether the allele frequency of the putative variant is significantl
250 he differences in linkage disequilibrium and allele frequency patterns across ethnic groups may incre
251 equencing read depth information and variant allele frequency patterns, to infer the true copy number
253 es of adiposity in Pima Indians, where the G allele (frequency: Pima Indians = 0.60, Europeans <0.01)
255 es the calculation of subpopulation specific allele frequency possible, which may shed light on selec
256 framework by leveraging individual-specific allele frequencies projected from reference genotypes on
257 elomeric SNPs indicated general agreement of allele frequencies (R = 0.95) and of the substitution ef
259 uals of African ancestry (~10% and ~1% minor allele frequency, respectively, and rare or monomorphic
260 ancestry informative variants with different allele frequency/selection pressure among (or between) a
261 t immigrants is substantial, with some large allele frequency shifts that otherwise may have been att
262 Comparisons of replicate lines show parallel allele frequency shifts that recapitulate responses to s
263 , show how this contributes to signatures of allele frequency shifts, and highlight how the rapid acc
265 oving its reliability in calling low variant allele frequencies somatic SNVs in low ctDNA levels plas
266 ustrating that genetic variation from a wide allele frequency spectrum contributes to cranial growth.
267 orary Ethiopian genomes, affects the overall allele frequency spectrum to an extent that makes it har
268 associations (P < 7.45 x 10(-11)) across the allele frequency spectrum, all of which replicate in an
269 abetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis
272 s study, the consistency of increase in 132L allele frequency suggests pathogen-mediated selection ha
274 ences in linkage disequilibrium or in causal alleles frequencies), the prediction accuracy of polygen
275 on the sample size, the (unknown) population allele frequencies, the actual relatedness and the estim
277 onsequences that drive changes in population allele frequency, thereby illuminating the process of ev
278 d statistical performance of different minor allele frequency thresholds and a range of genetic effec
280 rise SNVs at complex variant loci and at low allele frequency thus increasing the repertoire of detec
281 features like variant consequence and minor allele frequency to annotate the plot and addresses thes
282 n gene (BCR-ABL1) assay down to 0.01% mutant allele frequency to highlight the platform's utility for
283 whether these putatively adaptive shifts in allele frequencies translate into sufficient increases i
284 vast majority of human mutations have minor allele frequencies under 1%, with the plurality observed
286 analyzed for acquired mutations at a variant allele frequency (VAF) of 1% or higher in 27 driver gene
288 X1, and/or DNMT3A (A/R/D) pathogenic variant allele frequencies (VAFs) >= 30%, exhibited significantl
289 ge constraints imposed by the use of variant allele frequencies (VAFs, derived from bulk sequence dat
291 ssociated nominally with BCG osteitis; minor allele frequency was 0.215 in 130 BCG osteitis cases and
292 in circulating tumor DNA BRAF(V600E) variant allele frequency was seen in 87% versus 0% of patients (
293 marize the asymmetric pattern of Neanderthal allele frequencies, we compiled the joint fragment frequ
294 g Dirichlet and Beta priors for genotype and allele frequencies, we derive marginal likelihoods for a
295 ed with cancer predisposition were analyzed; allele frequencies were compared with publicly available
296 cancer cell lines with increased KRAS mutant allele frequency were more sensitive to MAP kinase inhib
298 reeds, Greyhounds had the highest CYP2B11-H3 allele frequency, while CYP2B11-H2 was widely distribute
299 e ones (1,380 fish) to associate genome-wide allele frequencies with continuous distributions of envi
300 and led to divergence between treatments in allele frequencies, with regions showing strong divergen