ライフサイエンスコーパス: non-synonymous

1 26/28 gut model and patient SNVs were non-synonymous, affecting a range of gene targets.

2 The 17 non-synonymous allelic differences occurred in the CFA/I

3 e that a single-nucleotide polymorphism, the non-synonymous alpha5 variant rs16969968, frequent in ma

4 were identified; these mutations resulted in non-synonymous amino acid changes or affected splicing s

5 KT/protein kinase B molecules), leading to a non-synonymous amino acid substitution in the highly con

6 resource for genome-wide annotation of human non-synonymous (amino acid changing) SNPs.

7 We used computed patterns of non-synonymous (amino acid-altering) nucleotide diversit

8 Within each fimbrial type, there were 17 non-synonymous and 1 synonymous point mutations among al

9 Non-synonymous and deleterious variants, segregating wit

10 c mutagenesis have revealed that synonymous, non-synonymous and intronic mutations frequently alter t

11 SNP-1 is non-synonymous and involves an amino acid change from Le

12 negative selection observed for synonymous, non-synonymous and loss-of-function mutations.

13 us substitutions between species compared to non-synonymous and synonymous polymorphisms within speci

14 s and overlapping codes are delineated along non-synonymous and synonymous positions in protein codin

15 s by calculating the nucleotide diversity at non-synonymous and synonymous sites in the coding region

16 selection based on the relative frequency of non-synonymous and synonymous substitutions between spec

17 BI's) Exome Sequencing Project revealed that non-synonymous ASB10 mutations are present in the genera

18 and whole-exome sequencing, we identified a non-synonymous c.2263G>C (p.G755R) mutation at the PLB1

19 umour models that a considerable fraction of non-synonymous cancer mutations is immunogenic and that,

20 ied de novo mutations show a large excess of non-synonymous changes in schizophrenia cases, as well a

21 is defined by multiple mutations, including non-synonymous changes in the virion protein 35 (VP35),

22 40 HIVAN or FSGS cases and controls revealed non-synonymous changes that could account for the diseas

23 In addition, two non-synonymous changes were detected: G168S change in ex

24 ineage leading to this group is enriched for non-synonymous changes within the genomic area of Salmon

25 Non-synonymous coding mutations in a gene change the res

26 tation, one splicing site mutation and seven non-synonymous coding mutations were identified.

27 Two non-synonymous coding polymorphisms within C3, R102G and

28 -coding, 6 were synonymous coding and 2 were non-synonymous coding sequence changes.

29 A total of 11 non-synonymous coding sequence mutations were detected i

30 A non-synonymous coding sequence variant (c.2 T > C; p.1Me

31 Non-synonymous coding sequence variations in the ankyrin

32 a change in the encoded amino acid sequence (non-synonymous coding SNPs or 'nsSNPs').

33 s we also identified the previously reported non-synonymous coding variants (E921D and E993V) which a

34 We then examined the effect of the non-synonymous coding variants identified on their cell

35 In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms

36 However, the frequency of synonymous and non-synonymous codon pair repeats varies in a correlated

37 tly correlated with the risk of spontaneous, non-synonymous conversion of methylated cytosines to thy

38 ns associated with artemisinin resistance--a non-synonymous Cys580Tyr substitution in 70 (65%) of 107

39 s (M30), which is significantly enriched for non-synonymous de novo mutations ascertained from patien

40 l sample, we identify and directly phase two non-synonymous de novo variants in SAMD9L, (OMIM #159550

41 Non-synonymous differences in viral proteins were identi

42 tion and a BACE2 intronic deletion) and 3/12 non-synonymous DNVs (in PSEN1, VPS35 and MARK4) targeted

43 in the 12 remaining trios and identified 12 non-synonymous DNVs in six patients.

44 the functional impact of the following three non-synonymous DNVs targeting this network: the novel PS

45 nificantly increased coronary disease in the non-synonymous dysfunctional variant cohort.

46 of EBV isolates from China, we identify two non-synonymous EBV variants within BALF2 that are strong

47 ting sites in coding sequence, including two non-synonymous edits in the Cacna1d gene that fell into

48 NECTAR (Non-synonymous Enriched Coding muTation ARchive) is a da

49 individuals with Wilms tumour and a de-novo non-synonymous FBXW7 mutation in a child with a rhabdoid

50 Eighteen rare non-synonymous GCKR variants identified in these 791 ind

51 To date, four non-synonymous genetic variants have been identified, tw

52 Evaluating the impact of non-synonymous genetic variants is essential for uncover

53 R-PSEP is a new software tool for predicting non-synonymous genetic variants that may play a causal r

54 proach will often identify a great number of non-synonymous genetic variants.

55 Non-synonymous genetic variation in SLC30A2 is common in

56 tant to understand as numerous mutations and non-synonymous genetic variation in ZnT2 have been detec

57 A non-synonymous IGFBP3 SNP in exon 1, rs2854746 (Gly32Ala

58 Here, we found that the non-synonymous IRAK2 variant rs708035 (coding D431E) inc

59 We here identified a non-synonymous IRAK2 variant, rs35060588 (coding R214G),

60 ing effect of rs1143679, a single nucleotide non-synonymous Mac-1 polymorphism associated with SLE.

61 For example, many non-synonymous missense SNPs (nsSNPs) have been found ne

62 ng variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings a

63 A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/

64 pecific immune response against the virus; a non-synonymous mutation in an epitope region of the viru

65 pes determining the fruit shape, including a non-synonymous mutation in the gene Longifolia 1-like (C

66 The non-synonymous mutation of the H5 hemagglutinin (HA) gen

67 ing and non-coding regions and synonymous-to-non-synonymous mutation ratios suggest the neutral drift

68 Z-scores of observed/expected synonymous and non-synonymous mutation ratios.

69 ing whole genome sequencing, we identified a non-synonymous mutation within an uncharacterized LacI-t

70 etic variant under selection in Europeans (a non-synonymous mutation, C282Y) has been relatively well

71 number of other single-sample reports of IDH non-synonymous mutation, did not elevate cellular 2HG le

72 ation, we found that potentially deleterious non-synonymous mutations (9566 SNPs) explained as much g

73 ith reduced cAMP production arising from the non-synonymous mutations (n = 23) with patients with non

74 brary of 1.9 x 10(7) with over 8500 possible non-synonymous mutations and inferred the effects of eac

75 Missense or non-synonymous mutations are nucleotide substitutions th

76 ions how conserving, or radically different, non-synonymous mutations are with respect to some key am

77 Evolving neoplasms accumulate non-synonymous mutations at a high rate, potentially ena

78 Assuming all non-synonymous mutations cause resistance, we report 90%

79 Molecular modeling predicts that these non-synonymous mutations could disrupt NADPHO complex as

80 ntiating between neutral and disease-causing non-synonymous mutations documented in the human populat

81 We systematically analyzed ~10(6) non-synonymous mutations extracted from COSMIC, involvin

82 ly been linked to epithelial malignancy with non-synonymous mutations identified in both MTG8 and MTG

83 This identified 52 somatic non-synonymous mutations in 32 genes, many of which were

84 Furthermore, we found non-synonymous mutations in a set of plausible candidate

85 Significant excess of non-synonymous mutations in AKAP4 (p<0.02), a gene media

86 We discovered non-synonymous mutations in ARID1A, FBXW7, PIGR, ZC3H12A

87 These data suggest that non-synonymous mutations in ASB10 do not cause Mendelian

88 All non-synonymous mutations in reactive T cell epitopes wer

89 We identify Asian-derived non-synonymous mutations in the AHR gene that associate

90 In two OS cases, we found de novo non-synonymous mutations in the genes KCNQ2 and SCN2A.

91 In this study we identified deleterious non-synonymous mutations in two cilia genes, Dnah11 and

92 approach, we introduce a barcoded library of non-synonymous mutations into hotspot codons 12 and 13 o

93 tations are detected using the synonymous to non-synonymous mutations ratio.

94 Moreover, we show that, despite only a few non-synonymous mutations specifically targeting arginine

95 region may show a relatively large number of non-synonymous mutations that conserve a particular prop

96 nymous mutations (n = 23) with patients with non-synonymous mutations that had no reduction in cAMP (

97 le of the BC supergene and dragging multiple non-synonymous mutations to high frequency.

98 erein we measure the effect of four adaptive non-synonymous mutations to the glycerol kinase (glpK) g

99 apolipoprotein A-V (APOA5), carriers of rare non-synonymous mutations were at 2.2-fold increased risk

100 ipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk

101 trum beta-lactamase CTX-M-15, and find three non-synonymous mutations with increased resistance again

102 represented in dbSNP and included predicted non-synonymous mutations with possible phenotypic effect

103 lastoma and these tumours contain only 30-50 non-synonymous mutations(5).

104 or (hIP) variants, we recently discovered 18 non-synonymous mutations, all with frequencies less than

105 human protein and numerous spliced variants, non-synonymous mutations, and post-translational modific

106 d over 260 000 somatic alterations including non-synonymous mutations, copy number variants and struc

107 in Southeast Asia there is a great excess of non-synonymous mutations, many of which cause radical am

108 l as two rare potentially disease-associated non-synonymous mutations, Q170H and R181G, in the ADAM10

109 e methods, its performance is not limited to non-synonymous mutations.

110 ncing of all MAP2K7 exons did not reveal any non-synonymous mutations.

111 mutations as well as between synonymous and non-synonymous mutations.

112 eage trees branches following synonymous and non-synonymous mutations.

113 The majority of these mutations were non-synonymous, nonsense or splice variants, and were en

114 No single non-synonymous (NS) single nucleotide variant (SNV) nor

115 coding variants down to 0.05% frequency [57% non-synonymous (NS), 42% synonymous and 1% gain or loss

116 ren, we identified 93 SNPs, 15 of which were non-synonymous (NS).

117 ral selection, as inferred from the ratio of non-synonymous nucleotide divergence (d(N)) to synonymou

118 Based on non-synonymous nucleotide substitution rates, the calcyo

119 Diversity estimates in non-synonymous nucleotides were on average 4x smaller th

120 increased with age, and many mutations were non-synonymous or resided in RNA coding genes and thus c

121 us on EMC-deficient cells, we identified two non-synonymous point mutations in NS4A and NS4B, which r

122 nome-wide studies have strongly associated a non-synonymous polymorphism (rs16969968) that changes th

123 A non-synonymous polymorphism (rs35859249, p.Arg125Trp) in

124 A common non-synonymous polymorphism in TM6SF2 (rs58542926 c.449

125 A single non-synonymous polymorphism within a protein synthesis g

126 , C397Y, A576V, E591G, R620Q, T1022A) due to non-synonymous polymorphisms in the HR gene.

127 ied potentially important human mAKAP coding non-synonymous polymorphisms located within or near key

128 Non-synonymous polymorphisms of both candidate genes rev

129 Non-synonymous polymorphisms were elevated in genes shar

130 nnotations, domains, secondary structure and non-synonymous polymorphisms.

131 ERAP1, including three novel and eight known non-synonymous polymorphisms.

132 level of hybridization potential relative to non-synonymous positions, and are multifunctional in the

133 ional SNPs considered, including synonymous, non-synonymous, predicted 'benign', predicted 'possibly

134 ction algorithms and conservation scores, 12 non-synonymous prediction algorithms and four cancer-spe

135 ified two with distinct, heterozygous, rare, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) tha

136 mutations in type I collagen, including five non-synonymous rare variants of unknown significance, of

137 Non-synonymous rates were significantly lower than expec

138 Association with non-synonymous rs17849502, previously reported in EA, wa

139 c rs78707713 and the lead SLC44A2 SNP is the non-synonymous rs2288904 previously shown to associate w

140 e polymorphisms, rs936938 (P=4.49 x 10(-8)), non-synonymous rs6537835 (P=3.26 x 10(-8)) and rs1877455

141 Recently, we reported that non-synonymous sequence variants in Niemann-Pick type C1

142 Five non-synonymous sequence variations were identified in th

143 However, 19 non-synonymous showed conventional P-values < 0.05 compa

144 tion (AAS) in a protein sequence is called a non-synonymous single nucleotide polymorphism (nsSNP).

145 A non-synonymous single nucleotide polymorphism of the hum

146 Any variation (e.g. non-synonymous single nucleotide polymorphism or mutatio

147 lcyon gene from 80 human subjects revealed a non-synonymous single nucleotide polymorphism that abrog

148 gic receptor gene (ADRB2) contains a common, non-synonymous single nucleotide polymorphism, Gly16Arg,

149 mind that currently there are no variations (non-synonymous single nucleotide polymorphism, nsSNP) de

150 Common non-synonymous single nucleotide polymorphisms (ns-SNPs)

151 ctiveness varies widely, which may be due to non-synonymous single nucleotide polymorphisms (nsSNPs)

152 studies discovered at least eight validated non-synonymous single nucleotide polymorphisms (nsSNPs)

153 Non-synonymous single nucleotide polymorphisms (nsSNPs)

154 initiatives are generating extensive data on non-synonymous single nucleotide polymorphisms (nsSNPs)

155 Non-synonymous single nucleotide polymorphisms (nsSNPs)

156 Gauging the systemic effects of non-synonymous single nucleotide polymorphisms (nsSNPs)

157 Non-synonymous single nucleotide polymorphisms (nsSNPs)

158 Genome-wide genetic mismatches in non-synonymous single nucleotide polymorphisms (nsSNPs)

159 Many non-synonymous single nucleotide polymorphisms (nsSNPs)

160 le-genome sequencing is identifying numerous non-synonymous single nucleotide polymorphisms (nsSNPs),

161 As the number of non-synonymous single nucleotide polymorphisms (nsSNPs),

162 oll-like receptor signaling, harboring eight non-synonymous single nucleotide polymorphisms in its co

163 We found several, known and new, non-synonymous single nucleotide polymorphisms in the pr

164 encing the AMCase gene exons we identified 8 non-synonymous single nucleotide polymorphisms including

165 The sheer volume of non-synonymous single nucleotide polymorphisms that have

166 ed SNAP to predict functional changes due to non-synonymous single nucleotide polymorphisms.

167 Non-synonymous single nucleotide variants (nsSNVs) in co

168 step in assessing the disruptive impacts of non-synonymous single nucleotide variants (nsSNVs) on hu

169 rently being sequenced, yielding millions of non-synonymous single nucleotide variants (SNVs) of poss

170 We identified 57 non-synonymous single nucleotide variants (SNVs) which w

171 ; also referred to as missense mutations, or non-synonymous Single Nucleotide Variants - missense SNV

172 ertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are consi

173 We focused on non-synonymous single nucleotide variants, also referred

174 th pre-computed predictions of the impact of non-synonymous single nucleotide variants, to facilitate

175 udy, we focus on a comprehensive analysis of non-synonymous single nucleotide variations (nsSNV) that

176 the reference followed by identification of non-synonymous Single Nucleotide Variations (nsSNVs) and

177 Identification of non-synonymous single nucleotide variations (nsSNVs) has

178 However, in human AQP4, only one non-synonymous single-nucleotide polymorphism (nsSNP) ha

179 Nearly one-third of non-synonymous single-nucleotide polymorphism (nsSNPs) a

180 A non-synonymous single-nucleotide polymorphism, A49T (rs9

181 We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs)

182 d the impact of a comprehensive panel of 109 non-synonymous single-nucleotide polymorphisms (nsSNPs)

183 sed to visualize amino acid substitutions or non-synonymous single-nucleotide polymorphisms in indivi

184 Here we report de novo non-synonymous single-nucleotide variants (SNVs) by cond

185 studied class of TSAs are those derived from non-synonymous single-nucleotide variants (SNVs), or SNV

186 ously found to harbour schizophrenia de novo non-synonymous single-nucleotide variants (SNVs; P=5.4 x

187 comes in form of protein-sequence altering (non-synonymous) single nucleotide variants (nsSNVs).

188 ewed nucleotide composition compared to both non-synonymous sites and non-coding regions.

189 hism and divergence data from synonymous and non-synonymous sites within genes.

190 ts affecting the evolution of synonymous and non-synonymous sites.

191 o protein structures and identify 45 nsSNVs (non-synonymous small nucleotide variations) near the cat

192 n linkage disequilibrium (LD) with rs7041, a non-synonymous SNP (D432E; P=4.1x10(-22)) and rs1155563

193 A non-synonymous SNP (encoding a Glu415Gly substitution) i

194 ial interest exists in determining whether a non-synonymous SNP (nsSNP), leading to a single residue

195 lso contained de novo mutations, including a non-synonymous SNP conferring antibiotic resistance in o

196 the determinate growth habit is caused by a non-synonymous SNP in CsTFL1 CsTFL1 is expressed in the

197 remaining CYP2J19 gene (CYP2J19(yb)), and a non-synonymous SNP in CYP2J40.

198 ulatory function at 8q23.3 and 16q22.1 and a non-synonymous SNP in RPHN2.

199 The peak signal in the 12p12.2 region was a non-synonymous SNP in SLCO1B1 (rs4149056, P = 6.7 x 10(-

200 y-parallel sequencing, a strongly associated non-synonymous SNP in the CAPN1 gene, encoding the calci

201 A non-synonymous SNP in the LRP5 gene was associated with

202 A non-synonymous SNP in the MC1R gene (rs1805007 encoding

203 s between airflow obstruction or COPD with a non-synonymous SNP in the TNS1 gene, which encodes tensi

204 omputational method, called the SNP-IN tool (non-synonymous SNP INteraction effect predictor).

205 rs12676 (G233T), a non-synonymous SNP located in the CHDH coding region, is

206 RM5/TYR region, in addition to the rs1042602 non-synonymous SNP located on the TYR gene, variants loc

207 e data sets, making them less than ideal for non-synonymous SNP prediction.

208 on a smaller group of SNPs that includes the non-synonymous SNP rs16969968, which retains a similar e

209 HRV SNPs tag non-synonymous SNPs (in NDUFA11 and KIAA1755), expressio

210 aracterization and validation of deleterious non-synonymous SNPs (nsSNPs) in the interleukin-8 gene u

211 ediction and identified 18 highly pathogenic non-synonymous SNPs (nsSNPs) out of 607 SNPs.

212 297,245 non-synonymous SNPs and 3330 copy number variation (CNV)

213 ous for the derived allele at synonymous and non-synonymous SNPs and for the damaging allele at 'prob

214 We identified numerous breed-specific non-synonymous SNPs and loss-of-function mutants.

215 Amino acid mutations resulting from non-synonymous SNPs in coding regions may generate prote

216 e population or the other, the proportion of non-synonymous SNPs is significantly higher in the EA sa

217 Schizophrenia risk-associated polymorphisms [non-synonymous SNPs rs821616 (Cys704Ser) and rs6675281 (

218 We identified conserved, ecotype-restricted, non-synonymous SNPs that are predicted to affect the pro

219 fdhps, Pfcrt, Pfk13 and Pfmdr1), and several non-synonymous SNPs were detected in these genes.

220 er hand, only a small percentage of SNPs are non-synonymous SNPs while many SNPs are actually located

221 redictions of the effect of point mutations (non-synonymous SNPs) on protein function (SNAP2).

222 ain Y-12632, with 41 and 13 genes containing non-synonymous SNPs, respectively.

223 Of these 132 SNPs (including two non-synonymous SNPs, rs1137100 and rs1137101), rs2767485

224 tative trait loci data and correlations with non-synonymous SNPs, we identified many candidate genes

225 or mutant specific binding, as compared with non-synonymous SNV derived neoantigens.

226 impacted by autism de novo SNVs (P=0.019 for non-synonymous SNV genes) did not survive Bonferroni cor

227 igh-affinity binders was three times that of non-synonymous SNV mutations.

228 tion Database and 10 002 putatively 'benign' non-synonymous SNVs from UCSC.

229 For non-synonymous SNVs present in proteins the difficulties

230 el (G12D), MNU tumours had an average of 192 non-synonymous, somatic single-nucleotide variants, comp

231 t a genome-wide level, our results implicate non-synonymous, splice site as well as stop-altering sin

232 Novel non-synonymous/splice-site variants in extracellular mat

233 Further genotyping indicated that a single non-synonymous substitution (A120G) in the N-terminal re

234 rom those in the wild type by only a single, non-synonymous substitution (Gly734Glu) in the psaA gene

235 The rate of non-synonymous substitution (omega = dN/dS), was high in

236 etrotransposons, the rates of synonymous and non-synonymous substitution among triplicated genes reta

237 lotypes differed from FFAR3 by only a single non-synonymous substitution and that the GPR42 reference

238 provide evidence for a significantly higher non-synonymous substitution rate than synonymous rate in

239 nt biological scales for both synonymous and non-synonymous substitution rates, which is only compati

240 Interestingly, non-synonymous substitution was observed at lower rates

241 s a negative correlation between the rate of non-synonymous substitutions (d(N)) and codon usage bias

242 ene conversion, despite the presence of some non-synonymous substitutions between plastid genomes of

243 rders reveals that relative average rates of non-synonymous substitutions in nuclear versus plastid g

244 In these flies, the presence of multiple non-synonymous substitutions, even at modest heteroplasm

245 of 2,163 effects were detected, 282 effects (non-synonymous, synonymous or stop codon gained) were lo

246 Non-synonymous/synonymous (dN/dS) analyses were performe

247 d normal tissues of each patient, we found 7 non-synonymous tissue specific editing events including

248 ed proteins are encoded by genes that have a non-synonymous to synonymous mutation rate even greater

249 xome-wide mutational excess calculated using non-synonymous to synonymous mutation ratios (dN/dS).

250 The ratio of non-synonymous to synonymous mutations (dN/dS) has becom

251 ach is to identify sites with high ratios of non-synonymous to synonymous mutations; however, if syno

252 equence analysis showed a very high ratio of non-synonymous to synonymous nucleotide substitutions (K

253 Alleles with the largest ratio of non-synonymous to synonymous nucleotide substitutions al

254 the prediction method based on the ratio of non-synonymous to synonymous substitution rates (dN/dS)

255 are based on whether each site/region has a non-synonymous to synonymous substitution rates ratio om

256 The ratio of non-synonymous to synonymous substitution rates showed a

257 Non-synonymous to synonymous substitutions (Ka/Ks) among

258 The ratio of non-synonymous to synonymous substitutions indicated tha

259 es under selection by estimating the rate of non-synonymous to synonymous substitutions with multiple

260 rn of selection, estimated from the ratio of non-synonymous to synonymous substitutions, varied consi

261 The rate of non-synonymous-to-synonymous changes (dN/dS) shows a sec

262 design strategy to create 27 non-natural and non-synonymous transcription factors using the lactose r

263 loci, and one new independent low-frequency non-synonymous variant in an established heart rate locu

264 We causally linked a non-synonymous variant in the conserved lipoyl domain of

265 e allele shared among them was rs78247304, a non-synonymous variant of KCNH7 (c.1181G>A, p.Arg394His)

266 A novel rare non-synonymous variant of large effect size in SLC22A12,

267 We recently identified a novel non-synonymous variant, rs1143679, at exon 3 of the ITGA

268 tect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD

269 the strongest enrichment for causality among non-synonymous variants (54x more likely to be causal, 1

270 /TYR), the association seems to be driven by non-synonymous variants (rs1426654, rs16891982, and rs10

271 ed two single-amino-acid deletions and three non-synonymous variants affecting conserved residues wit

272 on was also observed in association with two non-synonymous variants affecting the fibronectin type I

273 tools have been developed to predict whether non-synonymous variants are neutral or disease-causing.

274 er sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact.

275 We identified 7 rare non-synonymous variants in 7 of 20 genes and performed S

276 A significant enrichment of rare and de novo non-synonymous variants in chromodomain (CHD) genes was

277 ing hypothetical and metabolic proteins, and non-synonymous variants in genes involved in adhesion, i

278 We detected 1561 unique, non-synonymous variants in kinase genes in the 92 cases,

279 one frameshift and four different homozygous non-synonymous variants in NFASC.

280 ican Western HP strains contains a number of non-synonymous variants in relatively high frequencies w

281 ion and demonstrates how naturally occurring non-synonymous variants in RGS alter signaling.

282 Lead variants in four of the novel loci are non-synonymous variants in the genes C10orf71, DALDR3, T

283 Affected individuals carrying de novo non-synonymous variants involving the C-terminal region

284 Seq annotated several thousand more reliable non-synonymous variants than other widely used tools (e.

285 We filtered rare non-synonymous variants that were predicted to be damagi

286 an interim measure, exome arrays allow rare non-synonymous variants to be sampled at a fraction of t

287 Individuals with two or more MC1R non-synonymous variants were 3.59 times (95% CI=2.37-5.4

288 , aphasia, and hypotonia in which homozygous non-synonymous variants were identified in IQSEC1 (GenBa

289 Non-synonymous variants were identified in only one of t

290 Two protective, low-frequency, non-synonymous variants were significantly associated wi

291 We selected 520 non-synonymous variants with at least 7.5% frequency in

292 dentified gene-wide associations of uncommon non-synonymous variants within UBAP2 and STARD9.

293 We identified 16 non-synonymous variants, six of which were not identifie

294 ants down to 21 very rare (<0.1% frequency), non-synonymous variants.

295 ) more likely to have BCC than those without non-synonymous variants.

296 dentified seven additional PDS/PG-associated non-synonymous variants.

297 lection against deleterious variants governs non-synonymous variation among very closely related popu

298 a prediction method that measures paucity of non-synonymous variation in the human population to infe

299 ate that one of the haplotypes, carrying the non-synonymous variation known to code for a less stable

300 A subset of the hundreds of non-synonymous variations we identified was experimental