ライフサイエンスコーパス: exonic

1 ive SNPs are either intronic (89%) or silent exonic (11%).

2 tion (p = 0.024; pleiotropic SNPs more often exonic [14.5% versus 4.9% for nonpleiotropic, trait-asso

3 tructural rearrangements, including in-frame exonic alterations within EGFR and SIK2 kinases.

4 This implies that exonic Alu insertions are generally deleterious and thus

5 lymorphisms with the C57BL/6J (B6) allele--6 exonic and 177 intronic.

6 EG-GWAS identified the associated exonic and 3'UTR variants within the FGF5 and RSPO2 gene

7 timated sensitivity of 86.5% (82% for single-exonic and 88% for multi-exonic calls) and precision of

8 onic calls) and precision of 78% (53% single-exonic and 96% for multi-exonic calls).

9 We recovered two exonic and four intronic motifs that effectively silence

10 in MAGI3, occurring in the absence of local exonic and intronic mutations.

11 plicing-driven selective pressure constrains exonic and intronic sequences, especially those distant

12 d none have examined possible differences of exonic and intronic SNPs in these studies.

13 g splicing minigenes, we identified multiple exonic and intronic splicing enhancers and silencers tha

14 trates that mCpG provides a stable record of exonic and intronic usage, whereas H3K36me3 is dynamic.

15 inical and molecular genetic data, including exonic and near intron/exon boundaries of DCM genes, wer

16 singleton Alu insertions is constant across exonic and nonexonic regions.

17 biochemical phenotype, 2 variants in GC--one exonic and one intronic--were associated with serum DBP

18 plification and bi-directional sequencing of exonic and promoter regions and performed acetylcholine

19 Starting from possible exonic and spliced alignments of all end reads, our meth

20 We captured approximately 50 Mb of exonic and transcribed sequences of 3 closely related fa

21 As (lincRNAs), intronic overlapping lncRNAs, exonic antisense overlapping lncRNAs, and precursors for

22 We demonstrated that exonic binding of the normally intronic splicing factor,

23 s, one of which defines a novel function for exonic CA dinucleotide repeats.

24 .5% (82% for single-exonic and 88% for multi-exonic calls) and precision of 78% (53% single-exonic an

25 of 78% (53% single-exonic and 96% for multi-exonic calls).

26 hat approximately 60% of target bases in the exonic 'catch', and approximately 80% in the regional ca

27 led to two surprising discoveries: (i) many exonic circRNA (EcircRNA) isoforms share an identical ba

28 Of 51 exonic CLCNKA variants identified, one SNP (rs10927887,

29 t target region, we find between 170 and 250 exonic CNV calls per sample.

30 provided an effective means to assess small exonic CNV from whole-exome data, indicated that rare 1-

31 uch data could be used to reliably call rare exonic CNV in the size range of 1-30 kilobases (kb), mak

32 s (total of 55 genes) were enriched for rare exonic CNVs among BD cases, but none of these survives c

33 We identified genes enriched for rare exonic CNVs among cases, and then attempted to replicate

34 nic alleles by combining point mutations and exonic CNVs in multiple genes.

35 Importantly, however, we show that exonic coconversion can only explain diversity gradients

36 patterns of genetic diversity are caused by exonic coconversion, which occurs when introns spread to

37 low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact.

38 oding exons as part of an artificial intron (exonic COINs), greatly simplifying allele design and inc

39 to their constituent nongenic, intronic, and exonic components.

40 detection of single nucleotide variants and exonic copy number variants in one comprehensive assessm

41 included both single nucleotide variants and exonic copy number variants, such as hemizygous nonsense

42 ty, have 17% lower SSM density compared to exonic cores, even after excluding canonical splice site

43 nical care included high-depth (median 600x) exonic coverage of 410 cancer genes and whole-genome cop

44 t DNA methylation occurred preferentially in exonic CpGs of highly and stably expressed genes involve

45 variants, the method identified 32 potential exonic cryptic splice variants, two of which were experi

46 ative analysis of variant calling methods on exonic data from 202 genes sequenced at 24x in 7,842 ind

47 By examining the exonic de novo and inherited variants from 1,781 ASD qua

48 ce A (P = 3.31 x 10(-12)), with a particular exonic deletion (P = 1.59 x 10(-8)) in full linkage dise

49 An exonic deletion allele (IFNL4-DeltaG) bolsters the estab

50 We previously associated rare, exonic deletion copy number variants (CNV) with recurren

51 uded a common and sometimes homozygous 61 bp exonic deletion in SLC38A10, three CNVs found in lymphob

52 We identified a spontaneous exonic deletion in the orthologue of MutL-Homolog 3 (HvM

53 ea, we discovered a missense mutation and an exonic deletion in the SLC25A46 gene encoding a mitochon

54 and, most importantly, in a male proband, an exonic deletion of the TMLHE (trimethyllysine hydroxylas

55 and specificity >99% in covered regions) and exonic deletions (100% sensitivity and specificity).

56 find among 22,288 individuals that these HP exonic deletions associate with reduced LDL and total ch

57 hole-exome data, indicated that rare 1-30 kb exonic deletions could contribute to risk in up to 7% of

58 CACNA1A exonic deletions have also been reported in EA2 using qu

59 Recurring exonic deletions in HP likely enhance human health by lo

60 DMD gene mutations (all exonic deletions) were found in 6 of 37,649 newborn male

61 e novo CNVs, including single-exon and intra-exonic deletions, as well as interchromosomal duplicatio

62 Homozygous exonic deletions, nonsense mutations, and frameshift mut

63 For rare exonic deletions, the schizophrenia group had, on averag

64 two complex rearrangements, and three small exonic deletions.

65 es as often as common variants, and missense exonic disease mutations that have the least impact on p

66 The analysis of exonic DNA from prostate cancers has identified recurren

67 t from cutaneous melanoma, where hundreds of exonic DNA insults are usually detected.

68 which somatic events other than mutations in exonic DNA shape its genetic landscape and define its me

69 P)) (N(C)-N(P)), where N(C) is the amount of exonic DNA, and N(P) is a constant of about 10 Mb.

70 terns of nucleotide ordering in intronic and exonic DNA.

71 ting non-exonic variants, we focused on 3334 exonic DNMs for evaluation of their association with the

72 e intestinal peptide receptor 2 (VIPR2), and exonic duplications in C16orf72.

73 a mild-moderate mental retardation syndrome, exonic duplications in the gene for vasoactive intestina

74 For rare exonic duplications, six of 19 gene sets tested were enr

75 ata also identify an excess of intronic over exonic editing sites.

76 Here we identify a conserved non-exonic element (E4) that acts as a cortex-specific enhan

77 ss activation in which binding of RBM25 with exonic element CGGGCA may stabilize the pre-mRNA-U1 snRN

78 assays, we demonstrate that several of these exonic enhancer (eExons) candidates can function as enha

79 entified binding of SRp20 and SF2/ASF to the exonic enhancers and CUG-BP1 to the exonic silencer by R

80 and certain histone modifications also show exonic enrichment.

81 is, we compare human-mouse and human-macaque exonic evolutionary rates against experimentally determi

82 Furthermore, our analysis of genes with high exonic expression in brain and low burden of rare mutati

83 hylation level is negatively correlated with exonic expression level, but positively correlated with

84 An exonic GAG-repeat motif in these IR regions may function

85 ed fragments, and approximately 42% of multi-exonic genes were alternatively spliced.

86 Exonic genetic variation near each protein's respective

87 We show that an exonic GGG motif overlapped a critical exonic splicing e

88 of expression; we also isolated a conserved exonic hox2 enhancer from lamprey that drives segmental

89 restingly, both activities of Tra2 favor the exonic identity of the RNA sequences that encompass its

90 These conserved exonic IES determine alternative transcription products

91 Examples of precise loss of some exonic IES in the micronucleus and retention of others i

92 intronic regions and at least one additional exonic instance in the corresponding genome.

93 Exonic intermediate methylation correlates with exon inc

94 ethylation signals associated with upstream, exonic, intronic and downstream genomic loci from A. mel

95 all genomic compartments, such as promoters, exonic, intronic, and intergenic regions.

96 e genomes and each of the component classes (exonic, intronic, and nongenic regions) have similar top

97 preferential splicing of KIT at the adjacent exonic junction.

98 erefore screened patients without identified exonic lesions for mutations within conserved noncoding

99 DNA FISH, we further show that one of these exonic limb enhancers, Dync1i1 exon 15, has active enhan

100 Analysis by deep sequencing of mouse exonic loci containing A-to-I-editing sites revealed tha

101 d to monitor antisense expression across all exonic loci in mammalian genomes.

102 identified antisense transcription at 2,088 exonic loci of 1,516 UniGene clusters.

103 121 exonic LRRK2 variants were assessed in 15 540 individual

104 ce, and large set of SNPs including putative exonic markers associated with rubber related gene homol

105 The exonic mutation c.3538G>A causes 3 in-frame splicing var

106 Here we report a low median exonic mutation frequency of 0.60 per Mb (0.48 nonsilent

107 ed in 114 STGD patients with one known ABCA4 exonic mutation revealing, on average, 200 intronic vari

108 er with an intronic MAPT mutation or with an exonic mutation, developed accumulation and extracellula

109 Approximately 10% of exonic mutations altered splicing, mostly by disrupting

110 ching but not exceeding approximately 20,000 exonic mutations in <6 months.

111 The absence of exonic mutations in any of the transcripts (FLJ45803, LO

112 tenin/LEF-1-mediated transcription, displays exonic mutations in human prostate cancer and promotes c

113 lized, hidden mutations in patients who lack exonic mutations in the known disease genes.

114 Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delaye

115 We analyzed 4,964 published disease-causing exonic mutations using a massively parallel splicing ass

116 plex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 se

117 ) data, which are typically used for calling exonic mutations, have also been utilized in detecting D

118 nd in the gene sequence, including two novel exonic mutations: R251L and R396W, leading to substituti

119 s were obtained with a target containing the exonic N279K mutation which strengthens a splicing enhan

120 e-associated haploblocks express novel multi-exonic non-coding transcripts that are tissue-specific a

121 h case was characterized by a median of 24.5 exonic nonsynonymous single-nucleotide variations, and t

122 2q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions.

123 urred in compound heterozygous state with an exonic OPA1 missense variant (p.I382M; NM_015560.2).

124 ur in splice sites near intron borders or in exonic or intronic RNA regulatory silencer or enhancer e

125 tions in yet unknown Usher genes or in extra-exonic parts of the known genes - to date a largely unex

126 nd an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated

127 Sequencing of HAMP revealed exonic polymorphisms in 2 patients with PCT: heterozygos

128 No exonic polymorphisms were identified.

129 trimethylation (H3K27me3) tend to have more exonic positions in the promoter regions.

130 s (SF2 and Rbp1) that activate splicing from exonic positions were tethered intronically they failed

131 The exonic R38H and K170N mutants exhibited impaired nuclear

132 at the overwhelming majority of intronic and exonic RE are expressed in the same orientation as the g

133 ive CTCF binding sites in the hTERT proximal exonic region (PER) and determine their functional relev

134 Reads that can map to a targeted exonic region are identified using exact matches to tile

135 C repeat expansion from five to seven in the exonic region of the gene for cartilage oligomeric matri

136 nymous or stop codon gained) were located in exonic regions (13.04 %) and 294 placed in intronic regi

137 Sequencing studies of exonic regions aim to identify rare variants contributin

138 ted sequencing of genomic DNA amplified from exonic regions and associated splice intron site junctio

139 package to detect differential usage of both exonic regions and splice junctions.

140 hat increasing the coverage more than 10x in exonic regions does not improve the detection power of t

141 he normalized amount of aligned NGS reads in exonic regions of a gene.

142 indel discovery and characterization in the exonic regions of the example sequencing data can be com

143 spite the potentially high impact of CNVs in exonic regions on protein function.

144 Exchanging exonic regions revealed the functional importance of CCK

145 udies (GWAS), we achieve 90% coverage of all exonic regions using stringent design criteria.

146 Exonic regions were captured and sequenced using a next-

147 ovel somatic retrotransposon insertions into exonic regions, including an insertion into an exon of t

148 with specific histone marks, was enriched in exonic regions, suggesting that chromatin states can for

149 hole genome, genic, intergenic, intronic and exonic regions.

150 ia upon exposure to Microcystis primarily in exonic regions.

151 oci included promoter, 5'-UTRs, upstream and exonic regions.

152 ing sequences with 3 of 20 identified within exonic regions.

153 in a genome carry duplicated intronic and/or exonic regions.

154 tivated cryptic 5' or 3' splice sites within exonic regions; the third mutation activated a downstrea

155 ariant detection did not report 94.2% of the exonic repeat length variations in part because the alig

156 ynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL2

157 ed the entire coding region of JAK1 by total exonic resequencing of bone marrow DNA samples from 94 p

158 ween a approximately 25-kDa protein and this exonic residue of pre-mRNAs in the arrested bud31 null s

159 repression accompanied by the assembly of an exonic ribonucleoprotein complex with a tightly bound U1

160 otides in both translated and non-translated exonic RNA sequences.

161 h identified approximately 1,600 large multi-exonic RNAs across four mouse cell types.

162 many genes were more abundant than standard exonic RNAs.

163 ne tracts located 5' to the alphaCP-enhanced exonic segments.

164 While many DERs annotated to non-exonic sequence (41.1%), most were similarly regulated i

165 and displays a cityscape graphic summarizing exonic sequence at each position.

166 cers of their neighboring genes and that the exonic sequence is necessary for enhancer activity.

167 anscript involved a lineage-specific gain of exonic sequence with no homology to protein coding seque

168 rcular RNA molecules that typically comprise exonic sequences and are spliced at canonical splice sit

169 g purifying selection in their genomic loci, exonic sequences and promoter regions, with greater than

170 benchmark, we show that it produces shuffled exonic sequences having folding free energy closer to na

171 ified, and the evolution of the intronic and exonic sequences in the nucleus is described.

172 To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcript

173 The intronic repeats and exonic sequences must collaborate with one another, and

174 tional RBP-binding sites within intronic and exonic sequences of regulated pre-mRNA.

175 ity and test that the interaction with these exonic sequences promotes exon skipping.

176 ' splice site-bound U1 snRNA and neighboring exonic sequences that, in turn, inhibit stable associati

177 21 additional individuals from whom complete exonic sequences were available.

178 e sets, significantly more acquired and lost exonic sequences were detected in wheat than in model gr

179 repeats (160R) flanked by human intronic and exonic sequences.

180 1 promoter introns was conferred by promoter exonic sequences.

181 ticular, correspond to alternatively-spliced exonic sequences.

182 WAS of these biomarkers (n=2640) followed by exonic sequencing and genotyping.

183 This study demonstrates that exonic sequencing datasets, collected both in population

184 We carried out exonic sequencing of PIK3R1 from 42 EECs and 66 NEECs.

185 eted Sequencing Study, we performed targeted exonic sequencing of SCN5A (n=3699, European ancestry in

186 F to the exonic enhancers and CUG-BP1 to the exonic silencer by RNA affinity chromatography.

187 ng these single nucleotide polymorphisms and exonic single nucleotide polymorphisms rs6517137 and rs1

188 Analysis of 86,158 exonic single nucleotide polymorphisms that passed genot

189 ia to investigate the relationship of 11 630 exonic single-nucleotide polymorphisms (SNPs) and 43 cop

190 We identified 75 shared exonic single-nucleotide polymorphisms between Cpc-PH an

191 sm risk, we generated a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number

192 Seq run, we identified multiple intronic and exonic single-nucleotide variations (SNVs), including on

193 The largest class of these exonic-siRNAs (ex-siRNAs) are generated by RNA-dependent

194 Second, these proteins bind to the exonic site to block the transition of E' complex that e

195 e individuals and uncovered more than 10,000 exonic sites where the RNA sequences do not match that o

196 nizes a GGA-centered motif enriched in RBM10 exonic sites with high affinity and specificity and test

197 We further show that an exonic SNP associated with risk induces changes in super

198 hree single nucleotide polymorphisms (SNPs), exonic SNP rs12422149 and intronic SNPs rs1789693 and rs

199 The association between exonic SNP rs12422149 and TTP in patients treated with A

200 Ps from dbSNP and genotypes determined by an exonic-SNP array.

201 ering and principal component analyses using exonic SNPs consistently revealed two genetic clusters,

202 work highlights the importance of functional exonic SNPs for studying population genetic pattern in a

203 e for allelic imbalance at multiple reporter exonic SNPs in CD6 for two samples heterozygous at the m

204 The nonsynonymous exonic SNPs in SETDB2 and CDH26 which were co-localized

205 Examining burden scores from singleton exonic SNPs predicted to be deleterious indicated that c

206 Pairwise D analysis for exonic SNPs showed that the two populations were signifi

207 In this study, exonic SNPs, suitable for measuring mature mRNA levels a

208 d for five of these genes using other linked exonic SNPs.

209 cer and identified approximately 900 somatic exonic SNVs that disrupt splicing.

210 These analyses identified a low exonic somatic mutation rate (0.31 non-silent events per

211 These analyses revealed a mean exonic somatic mutation rate of 12.0 events/megabase and

212 This ratio is controlled by an exonic splice enhancer in exon 12 and its associated spl

213 Analysis of exon 12 sequences identified an exonic splice enhancer that binds serine arginine splici

214 nsistent with a role in splicing modulation, exonic splice enhancers have a lower SSM density before

215 ort hairpin RNA (shRNA) complementary to the exonic splicing chaperone SRp40 expressed 30% less SRp40

216 attributable to nonsense-mediated decay and exonic splicing elements.

217 Finally, we report the presence of a novel exonic splicing enhancer (ESE) element within the 5'-pro

218 This regulation involves an exonic splicing enhancer (ESE) in exon 12 of the mRNA.

219 In this study, an exonic splicing enhancer (ESE) in the nucleotide (nt) 35

220 n in the Adam17 gene that ablates a putative exonic splicing enhancer (ESE) sequence in exon 7 result

221 o the LINE1 insertion the inactivation of an exonic splicing enhancer (ESE) within exon 6 is required

222 e exonic splicing silencer (ESS3a/b), and an exonic splicing enhancer (ESE3).

223 proximal to 5'ss D2; and an SRp75-dependent exonic splicing enhancer (ESEVif).

224 ied a splicing regulatory element in exon 3 (exonic splicing enhancer 2 (ESE2)), but we had not deter

225 g mutations within exon 11, we detected both exonic splicing enhancer and exonic splicing silencer el

226 We now show that the change creates a new exonic splicing enhancer element and increases the amoun

227 mical approaches underscore the relevance of exonic splicing enhancer loss and silencer gain in inher

228 cleotide change), which lies in a suggestive exonic splicing enhancer motif in exon 1, was common onl

229 thereby altering the recognition of specific exonic splicing enhancer motifs to drive recurrent mis-s

230 e sequencing led to the identification of an exonic splicing enhancer mutation in exon 7 of CIZ1 (c.7

231 g of the central RNA recognition motif to an exonic splicing enhancer sequence, a phenomenon reversed

232 ysis revealed that Ins44 disrupts a putative exonic splicing enhancer that allows for skipping of exo

233 of a serine/arginine-rich (SR) protein to an exonic splicing enhancer, thereby inhibiting splicing at

234 at an exonic GGG motif overlapped a critical exonic splicing enhancer, which was predicted to bind th

235 ne of these SNPs, rs10185378, is a predicted exonic splicing enhancer; significant alteration in the

236 ole of auxiliary cis-acting elements such as exonic splicing enhancers (ESE) and exonic splicing sile

237 rom constitutive SREs, since only 18% of our exonic splicing enhancers (ESEs) are contained in consti

238 promote spliceosome formation by recognizing exonic splicing enhancers (ESEs) during pre-mRNA splicin

239 d repressors mapped four physically distinct exonic splicing enhancers (ESEs) within HIPK3-T, each co

240 The SREs include exonic splicing enhancers (ESEs), exonic splicing silenc

241 ns that promote exon inclusion by binding to exonic splicing enhancers (ESEs).

242 RNA is defined by three GAA motif-containing exonic splicing enhancers and a G/GU-rich intronic splic

243 tutions in constitutive exons tend to create exonic splicing enhancers and to disrupt exonic splicing

244 differences in U1 binding or the density of exonic splicing enhancers but may be partially attribute

245 sting that engagement of the SR protein with exonic splicing enhancers can regulate phosphoryl conten

246 Examining exonic splicing enhancers found near the splice junction

247 onymous substitutions that disrupt predicted exonic splicing enhancers or create predicted exonic spl

248 exon inclusion in regulated splicing through exonic splicing enhancers.

249 We present a large-scale characterization of exonic splicing mutations using a new technology that fa

250 ar-splice site synonymous mutations changing exonic splicing regulators and those within frontal cort

251 termine rates of loss or gain of known human exonic splicing regulatory (ESR) sequences associated wi

252 in somatic tissues due to the function of an exonic splicing silencer (ESS) complex present on the 5'

253 An exonic splicing silencer (ESS) in the HPV18 nt 612 to 63

254 Mechanistic analysis revealed that an exonic splicing silencer (ESS) regulated caspase-9 pre-m

255 ntronic splicing silencer (ISS), a bipartite exonic splicing silencer (ESS3a/b), and an exonic splici

256 Initial hnRNP A1 binding to an exonic splicing silencer at the 3' end of human immunode

257 e detected both exonic splicing enhancer and exonic splicing silencer elements.

258 such as exonic splicing enhancers (ESE) and exonic splicing silencers (ESS) in human inherited disea

259 Es include exonic splicing enhancers (ESEs), exonic splicing silencers (ESSs), intronic splicing enha

260 ate exonic splicing enhancers and to disrupt exonic splicing silencers, implying positive selection f

261 xonic splicing enhancers or create predicted exonic splicing silencers.

262 e; however, a C-->T substitution converts an exonic-splicing enhancer (ESE) to a silencer (ESS), caus

263 ) exon as being uniquely densely packed with exonic-splicing enhancers (ESEs), rendering this exon hy

264 ned with our previous method that identifies exonic tags for GMAS, this study yielded 622 GMAS exons.

265 ying two alternative promoters, one intronic/exonic, to generate two sequence-overlapping but functio

266 ined a stringent set of 1133 noncoding multi-exonic transcripts expressed during embryogenesis.

267 q on 21 human tissues to identify 1775 multi-exonic transcripts from 561 intronic and intergenic hapl

268 hat completely matched both the intronic and exonic U1 binding sequences of the mutated DDC gene coul

269 mouse genome, including CpG islands and non-exonic ultraconserved elements (UCEs).

270 We examined rare exonic variant associations in ADAMTS13 in 1609 individu

271 The rs2230926 exonic variant was associated with an increased risk for

272 V6 in 4405 childhood ALL cases identified 31 exonic variants (four non-sense, 21 missense, one splice

273 pands the diagnostic tools for detecting non-exonic variants and provides examples of intronic loss-o

274 Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadC

275 CDI and AAD subjects were determined by MBL2 exonic variants B, C, and D and the haplotypes (LYPB, LY

276 Rare nonsynonymous exonic variants can now be efficiently genotyped, allowi

277 identified and tested 111,592 nonsynonymous exonic variants for association with behavioral disinhib

278 Examination of intronic and exonic variants found using whole-genome sequencing of i

279 gh-coverage exome-sequencing, we studied the exonic variants in 1265 individuals from the Rotterdam s

280 We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to i

281 ssion of genes with and without heterozygous exonic variants in the same cells.

282 structure to explore whether relatively rare exonic variants influence the burden of depressive sympt

283 Genotyping was done for exonic variants of LRRK2 that were identified through se

284 SCARB1 exonic variants often result in diminished function of t

285 ent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization.

286 Analysis of more than 650,000 intronic and exonic variants revealed widespread patterns of mutation

287 an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigene

288 In the discovery cohort, rare exonic variants that segregated in multiple affected ind

289 fied from RNA-seq, and comparable numbers of exonic variants were identified in RNA-seq and WES.

290 Seventeen coding exonic variants were significantly associated with disea

291 These results suggest that exonic variants with large effect sizes are unlikely to

292 mes Project database of 1092 individuals for exonic variants within 3 sarcomere genes MHY7, MYBPC3, a

293 n P=.043, and Asian P=.027), suggesting that exonic variants within this gene modify AD susceptibilit

294 After eliminating non-exonic variants, we focused on 3334 exonic DNMs for eval

295 Comprehensive genotyping of exonic variation combined with single-variant and gene-b

296 he allosteric-like/far-reaching effect of an exonic variation on pre-mRNA splicing that is mediated b

297 -wide screens for CNVs, common variation and exonic variation--are converging on similar sets of path

298 Fifteen of 32 exonic variations altered the POR amino acid sequence; 1

299 nce motifs and have distinct preferences for exonic versus intronic or coding versus untranslated tra

300 ine/arginine rich (SR) proteins tended to be exonic whereas heterogeneous ribonucleoprotein (hnRNP) r