ライフサイエンスコーパス: variant

1 post-review concordance rate of 84% (118/140 variants).

2 d intron of the CDH1, as the putative causal variant.

3 g evidence of benefit for the post-traumatic variant.

4 for individuals who inherit a monogenic risk variant.

5 ng, 27 (41%) carried the familial pathogenic variant.

6 nts which further translated into 12 protein variants.

7 d in motif-rewiring mutations and structural variants.

8 and such effects may be moderated by genetic variants.

9 previously undescribed and novel resistance variants.

10 l dominant (AD) and recessive (AR) causative variants.

11 topology was examined using several deletion variants.

12 iduals harboring putatively pathogenic BICRA variants.

13 erse event rates as observed with truncating variants.

14 lopment of new stereospecific cross-coupling variants.

15 225 substitutions, found in 100% of selected variants.

16 encies and LD statistics of dbSNP catalogued variants.

17 ore (PRS) methods to examine rare and common variants.

18 ents with WMS4 caused by pathogenic ADAMTS17 variants.

19 distinguish somatic and unfiltered germline variants.

20 s a result of germline testing for inherited variants.

21 ls harboring 105 distinct heterozygous NFKB1 variants.

22 The submitted variant set included 28 P/LP variants, 96 VUS, and 34 LB/B variants, mostly in cancer

23 facilitates precise isogenic comparisons of variants across genetic backgrounds.

24 dow within neurodevelopment in which MS risk variants act upon the brain.

25 arly when annotating whole-genome sequencing variants against a huge database with billions of genomi

26 redispose to cirrhosis, to test whether such variants, aggregated into a polygenic score, enable geno

27 io, 1.36 [95% 1.10-1.68]; P=0.004; CHIP with variant allele frequency >0.1: odds ratio, 1.40 [95% CI,

28 ration sequencing read depth information and variant allele frequency patterns, to infer the true cop

29 e resequenced for the identification of rare variants (allele frequency < 0.05) in 16.9 kB of SERPINA

30 rally in the field, using lines that contain variant alleles for the key photoperiod gene, Photoperio

31 found differences as compared to the soluble variant and the homologous FcgammaRIIIa on natural kille

32 PSVs in segmental duplications overlaps with variants and adversely impacts short-read variant callin

33 play between-novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loc

34 phages in experiments using recombinant TSP4 variants and in cells derived from P387-TSP4 knock-in mi

35 Identifying the functional variants and key genes within these association regions

36 (one nonsense, one splice site, six missense variants and one in-frame deletion) and one family with

37 s for assaying putatively functional genetic variants and regions, emphasizing MPRAs and the opportun

38 ever, the causal nature of single-nucleotide variants and small insertions and deletions in exomes ha

39 stand the functional significance of genetic variants and to utilize the discovery of molQTLs in prec

40 RNA-binding proteins, RNA structure-changing variants and transcriptional features.

41 h AF, analyzing the number of PVs, accessory variants and veins, diameter and ostial shape, distance

42 influenced by myriad small-effect noncoding variants and/or by rare but severe coding variants, many

43 01 versus Genome Aggregation Database common variants) and were associated with similar hypertrophy s

44 tor F508del-CFTR, the most common CF-causing variant, and confirm rescue by low temperature, CFTR-tar

45 esence of MRI findings, facial morphological variants, and CNVs, statistically significant relationsh

46 assay in quantifying authentic HIV minority variants, and support the use of this approach to examin

47 ation data and sequencing variants, existing variant annotation algorithms lack the efficiency and sc

48 ic annotations has demonstrated that AD risk variants are enriched in myeloid-specific enhancers, imp

49 ome-wide association studies have shown many variants are found within putative enhancer elements.

50 In addition, 14 variants are identified that contribute to both LOAD ris

51 lyubiquitination and aggregation of the SOD1 variants are independent events.

52 9% of the shared variants are not explained by any model.

53 that novel and stably inherited methylation variants are of biological significance.

54 Nine of the variants are predicted to result in loss-of-function of

55 abases, a large number of disease-associated variants are still hidden in the biomedical literature.

56 We report bi-allelic pathogenic HPDL variants as a cause of a progressive, pediatric-onset sp

57 ian randomization (MR) is the use of genetic variants as instrumental variables to infer the causal e

58 We found 14 of the 49 published variants associated with acenocoumarol maintenance dose

59 We aimed to identify genetic variants associated with asthma hospitalizations.

60 Genetic variants associated with lower SMAD5 expression may incr

61 Common IRF5 genetic risk variants associated with multiple immune-mediated diseas

62 Variants associated with PMG or atypical gyration encode

63 n-EUR individuals, we identified 5,552 trait-variant associations at p < 5 x 10(-9), including 71 nov

64 or detecting causal effects by using genetic variant associations.

65 igh-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci).

66 al droplet PCR assays were developed for 121 variants (average 5/patient) identified from tumor seque

67 rences in the abundance of amplicon sequence variants between sample types in children and adults.

68 ces composed of metamolecules with spatially variant building blocks, such as gradient metasurfaces,

69 associations in cases versus controls, rare variant burden testing of 56 genes revealed enrichment i

70 foster advanced offline analysis of missense variants by a wide biological community.

71 ery via decreasing the number of segregating variants by orders of magnitude.

72 nd identified the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer4) in M1AP, encoding m

73 itional 8.9 Mb of DNA sequence was mappable, variant calling achieved a higher F1 score and 14 713 ad

74 Variant calling and insertion sequence detection were pe

75 th variants and adversely impacts short-read variant calling.

76 However, some missense variants can be informative for developing a more profou

77 tates, target genes, and mechanisms by which variants can cause diseases or alter phenotypic traits.

78 large, well-curated clinical cohort of PTEN-variant carriers.

79 cent years and has been associated with H3N2 variant cases in humans from 2016 and 2017.

80 HS2ST1 variants cause a reduction in HS2ST1 mRNA and decreased

81 Many of these variants cause complete loss of NHE6 expression, but how

82 We found that TOGARAM1 variants cause JBTS and disrupt TOGARAM1 interaction wit

83 Compared to B-type (non-variant) cells of P. polymyxa strain E681, its phenotypi

84 ts into the genomic properties of structural variant classes and short tandem repeats that are associ

85 Nontruncating pathogenic variants clustered in the C3, C6, and C10 domains (18 of

86 Copy number variants (CNVs) are pervasive in several animal and plan

87 DFT1 gradually accumulates copy number variants (CNVs), and its telomere lengths are short but

88 Here we report 433 variants concordantly associated with HPC in both study

89 Whether variants confer a fitness advantage or rise to detectabl

90 Whether the variant confers protection from specific risk factors fo

91 hich highly penetrant, multigene copy number variants contribute to disease risk.

92 , (4) diagnostic phenotypic testing, and (5) variant correlation-through which a clinician can distin

93 The three variants corresponded to posttranscriptional activity, i

94 ne editing to correct multiple distinct gene variants could be highly efficacious if designed appropr

95 ults provide proof of principle that D/N Vif variants could have therapeutic potential.

96 ng frequency of the SARS-CoV-2 spike protein variant D614G are suggestive of a selective advantage bu

97 Two variants, DAD2(N242I) and DAD2(F135A), having substituti

98 forts in developing and maintaining accurate variant databases, a large number of disease-associated

99 The mayonnaise variants demonstrated pleasant organoleptic characterist

100 ividuals without PI Z, S, or additional rare variants denoted as V(R).

101 removing reference bias, and more sensitive variant detection in comparison with bwa, especially for

102 The primary outcomes included pathogenic variant detection performance in 118 cancer-predispositi

103 These panels provide genetic resolution for variant discovery and functional characterization, as we

104 RCCs accelerate functional variant discovery via decreasing the number of segregati

105 Although PsychArray variants do not represent exhaustive variation within th

106 nitesimal model of a large number of genetic variants, each with very small effects, whose causal eff

107 nstrated that DMS will be crucial to improve variant effect prediction methods, data diversity hinder

108 they are all inferior to the best performing variant effect predictors for identifying pathogenic mut

109 -induced CD8 T cells poorly cross-recognized variant epitopes encoding HLA-I-associated adaptations,

110 ntrast, ribosomes incorporating the missense variant erroneously read through UAG and UGA stop codons

111 One group of splice variants excludes the first transmembrane (TM) domain an

112 The FVIIa-VYT variant exhibited 60-fold higher amidolytic activity tha

113 g brains, we identified thousands of genetic variants exhibiting allele-specific open chromatin (ASoC

114 of functional annotation data and sequencing variants, existing variant annotation algorithms lack th

115 deuterium exchange experiments show that the variant exists in a major native state, two minor native

116 y, patients with melanoma carrying the APOE4 variant experienced improved survival in comparison to c

117 this cohort and applied 2 hypotheses to our variant filtering.

118 Most risk variants for brain disorders identified by genome-wide a

119 contribute toward prioritizing subthreshold variants for disease association.

120 to provide summary estimates for >9 million variants for male and female individuals.

121 We identified genetic variants for MR analysis to investigate the causal assoc

122 lopmental processes affected by diverse risk variants for SCZ and ASD and elucidate mechanisms throug

123 4 trios after quality control), comparing DN variant frequencies with 777 previously sequenced unaffe

124 studies enabled reclassification of a KCNQ1 variant from variant of unknown significance to pathogen

125 ariants, we identify 39 candidate functional variants from 14 loci displaying allelic transcriptional

126 used to fractionate various size and charge variants from the stressed IgG(1).

127 ciation tests have limited scope to leverage variant functions.

128 m Pseudomonas putida MET94 (PpDyP) and three variants generated by directed evolution (DE) are studie

129 or) type Z heterozygotes and additional rare variant genotypes in the gene encoding alpha-1 antitryps

130 fully genotyped SNPs (>96%) and for the rare variants (>99%).

131 Carriers of this FOLH1 variant had less efficient cortical activity during work

132 At 6 months, 7 ARRs with pathogenic variants had undergone cancer surveillance interventions

133 sis shows 1/3 of patients with germline P/LP variants have at least one druggable alteration, while m

134 Both variants have identical network connectivity and were co

135 elioma is highly aggressive; its sarcomatoid variants have worse prognosis.

136 -risk features were defined by bulky tumors, variant histology, lymphovascular invasion, hydronephros

137 Its substituted variants, however, have been less carefully examined.

138 Functional analysis of ALG6 variants identified a catalytic aspartate residue that p

139 ested cell-type-specific contexts for causal variants, implicating CD4 + effector memory T cells, as

140 de strong evidence for pathogenicity of this variant in a member of the core TRAPP subunit, TRAPPC4 t

141 We identified a second variant in FAF1 in the validation cohort (c.254G>C; p.Ar

142 Expression of the TPC1DeltaCa (i) variant in phloem companion cells caused strongly reduce

143 functionally important, Polynesian-specific variant in the CREBRF gene, rs373863828.

144 We created a library of nearly all possible variants in a 36 base region of SCN5A in the S4 voltage

145 Human variants in AK2 cause reticular dysgenesis, a severe com

146 rst large-scale, exome-wide analysis of rare variants in AMD.

147 e patients with pathogenic/likely pathogenic variants in ATP13A2, PLA2G6, PRKN, or PINK1 was signific

148 pic spectrum associated with pathogenic PBX1 variants in both humans and mice.

149 hese findings highlight the need to study WD variants in both the homozygous and compound-heterozygou

150 croglia-like cell lines (hMGLs) harboring AD variants in CD33, INPP5D, SORL1, and TREM2 loci and cura

151 on in the pathogenesis of dystonia, although variants in different subunits display different phenoty

152 We identified five patients with biallelic variants in EXOSC5, which encodes a structural subunit o

153 eration but also demonstrate that pathogenic variants in GBF1 are associated with HMN/CMT2.

154 A previous study found variants in genes associated with glycine-serine metabol

155 The presence of variants in genes associated with monogenic forms of neu

156 Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor pr

157 analysis methods focus on individual common variants in genome-wide association studies.

158 gle codon changes encoding 14,160 amino acid variants in Hsp90 and quantified growth effects under st

159 ficance of maternally inherited X chromosome variants in males with neurocognitive phenotypes continu

160 Here, we report that de novo missense variants in MAPK1, encoding the mitogen-activated protei

161 CHCHD10(S59L) mutation, the role of CHCHD10 variants in mitofilin-associated protein complexes in br

162 ficance and predictive value of trans-ethnic variants in multiple populations and compared genetic ar

163 The frequencies of pathogenic variants in PALB2, MLH1, and SMARCE1 in UM patients were

164 s with and 19 individuals without pathogenic variants in POLG.

165 ividuals with de novo loss-of-function (LoF) variants in protein phosphatase 1, regulatory subunit 12

166 ificities of two highly similar CDC42 splice variants in regulating distinct stages of neurogenesis.

167 ering and the functional analysis of genetic variants in reverse genetics.

168 Variants in several genes, such as those causing connect

169 outs of chromatin in an effort to prioritize variants in terms of their impact on gene expression in

170 A higher proportion of pathogenic variants in the CFH (odds ratio [OR] = 2.88; P = 0.006),

171 There are 2 allelic variants in the elk prion protein gene: L132 (leucine) a

172 defects have been observed in patients with variants in the gene encoding a member of this complex,

173 sequencing identified hemi- and heterozygous variants in the N-terminal domain of the A isoform of FH

174 the regulatory roles for inherited noncoding variants in the pathogenesis of CLL.

175 Coding variants in TMEM175 are likely to be responsible for the

176 Functional analysis of 4 variants in transmembrane domains 1 or 2 (p.Ile246Thr, p

177 yndrome (JBS), which is caused by bi-allelic variants in UBR1, notably by the presence of epilepsy an

178 ce risk genes, each containing 2 DN damaging variants in unrelated probands: CHD8 and SCUBE1.

179 We studied WT Cel7A and several variants in which one or two of four highly conserved Tr

180 Though common variants individually have small effects on disease risk

181 ame deletion) and one family with a missense variant inherited from the affected mother.

182 -level IR (e.g., insulin receptor pathogenic variants, INSR) causes hyperglycemia without steatosis.

183 We conclude that variants investigated in this domain do not cause diseas

184 DHBc variants lacking a folding-proficient extension produced

185 uding point mutations and supernumerary copy variants, lead to severe and fatal disease.

186 icra that mimics one of the loss-of-function variants leads to craniofacial defects possibly akin to

187 .15, P=3.26x10(-14)) when restricting to LOF variants located in exons highly expressed in cardiac ti

188 ng variants and/or by rare but severe coding variants, many de novo.

189 e product of biological noise, while the LCI variants may be under tighter selection and consequently

190 The variant microstructure evolution is tracked and the simi

191 lternative splicing of exon 1, type I splice variants (MOCS1A) either localize to the mitochondrial m

192 cluded 28 P/LP variants, 96 VUS, and 34 LB/B variants, mostly in cancer (40%) and cardiac (27%) risk

193 n (n = 20), FGFR2 or FGFR3 single-nucleotide variants (n = 19), or FGFR1 or FGFR3 fusions (n = 9).

194 ssociation studies have identified noncoding variants near TBX3 that are associated with PR interval

195 cond patient was homozygous for a frameshift variant (NM_001348097.1:c.1294delA, p.[Thr432Profs*13]).

196 We developed a variant of a GO/NOGO task that reveals important differe

197 The E4 variant of apolipoprotein E (APOE4), the main susceptibi

198 In this study, we investigated an OR(His) variant of Arabidopsis OR, genetically mimicking the mel

199 within cilia, we knocked in a cilia-excluded variant of ARL13B (V358A) and showed it retains all know

200 A variant of difference-in-differences (DID) approach was

201 ly viewed as an aberrant and inconsequential variant of the canonical V(D)J recombination.

202 tasks, the data were best accounted for by a variant of the drift diffusion model including a non-lin

203 We additionally used a fluorescent variant of the LD-specific protein (PLIN2) that exhibits

204 to-side-to-side-to-end strictureplasty, is a variant of the original SSIS technique to address severe

205 led reclassification of a KCNQ1 variant from variant of unknown significance to pathogenic.

206 the CD8 T-cell response to recognize several variants of a single epitope is an important considerati

207 and for robust evaluation of diseased-linked variants of formin.

208 Thus, understanding how variants of IFI16 and AIM2 contribute to periodontal dis

209 specific" genes, efforts which focus on rare variants of large effect size that are thought to accoun

210 Circumsporozoite protein (CSP) variants of P. vivax, besides having variations in the p

211 We also show how more challenging variants of rubazonic acid are efficiently prepared usin

212 ciation, and adhesion modality in a panel of variants of the Car9 silica-binding peptide (DSARGFKKPGK

213 its analgesic efficacy might be modified by variants of the catechol-O-methyltransferase (COMT) gene

214 protein kinase kinases (MEKs/MKKs) and some variants of the NLRP1 inflammasome sensor, targeting of

215 A number of variants of the recently synthesized cycloparaphenylene

216 d anaphylaxis and food allergy than divalent variants of the same mAbs do.

217 adotropic hypogonadism (IHH) associated with variants of these genes in humans.

218 pathogenic: 18%, P<0.0001) but an excess of variants of uncertain significance (24%, P<0.0001), as c

219 pathogenic/likely pathogenic: 31%, excess of variants of uncertain significance: 7%).

220 Disease-causing sequence variants often affect binding residues.

221 for the prediction of regulatory effects per variant on several cell type-specific chromatin features

222 sively evaluate the effects of rare SERPINA1 variants on lung function and emphysema phenotypes in su

223 is a common way to study the effect of gene variants on phenotypic traits, but the Cre/loxP and Tet-

224 Here, we focus on the impact of H3 variants on various facets of development.

225 roach to examine the impacts of minority HIV variants on virologic response and clinical outcome.

226 nine additional patients with de novo KCNN2 variants (one nonsense, one splice site, six missense va

227 ing, we identified a heterozygous frameshift variant (p.Ser117HisfsTer10) in F3, the gene encoding TF

228 Yeast and mouse mimics of the most common variant, P286R, produce mutator effects far exceeding th

229 Directed evolution of a serine-ligated P450 variant, P411-C10, yielded a lineage of engineered P411

230 urons are enriched for neuropsychiatric risk variants, particularly those associated with schizophren

231 ly fewer confidently interpreted HCM disease variants (pathogenic/likely pathogenic: 18%, P<0.0001) b

232 re function and can be used to predict TNNT2 variant pathogenicity.

233 ic leukemias identified a recurrent intronic variant predicted to cis-activate the TAL1 oncogene, a f

234 Analysis of variant proteins both in vivo and in vitro confirmed tha

235 An integrative analysis of these variants provided a more formal link between these pheno

236 A 29-variant PRS was strongly associated with AAA (odds ratio

237 n distributions of the resistance-associated variants (RAVs) for each drug were analysed.

238 ge requires us to identify causative genetic variants, relevant cell types/states, target genes, and

239 s), NR2F2 and NR2C2, can bind to (TCAGGG)(n) variant repeats within telomeres and it has been propose

240 Many AF-associated genetic variants reside in noncoding regions; this knowledge gap

241 reveal that a gain-of-function JAK1 genetic variant results in a mutant protein with mosaic expressi

242 Phe-316 and Tyr-766 variants retained catalytic activity, albeit with altere

243 Staphylococcus aureus small colony variants (SCVs) are frequently associated with chronic i

244 single pattern of mutations among intra-host variants sensitive to TDF indicate a complex genetic enc

245 pression prediction accuracy on held out and variant sequences.

246 The submitted variant set included 28 P/LP variants, 96 VUS, and 34 LB

247 rmline pathogenic cancer susceptibility gene variant should be offered individualized genetic risk ev

248 LoF WBP11 variants should be considered as a possible cause of VAC

249 lteration types, including single-nucleotide variants (SNVs), small insertions and deletions (indels)

250 ne the pathogenicity of BRCA2 leaky splicing variants, some of which may not increase cancer risk.

251 six (176) adults participated; 47 of unknown variant status and 129 with variant status known (59 car

252 d; 47 of unknown variant status and 129 with variant status known (59 carriers/70 non-carriers).

253 Genetic risk variants strongly associated with expression of SNX19 tr

254 21% and 63% of variants submitted as P and LP, respectively, were disco

255 eved a higher F1 score and 14 713 additional variants supported by linked-read data were identified.

256 s of P. polymyxa strain E681, its phenotypic variant, termed as F-type, fails to form spores, does no

257 Gene-based rare variant tests implicated a known prostate cancer gene (H

258 ce of a helper adenovirus to yield a new AAV variant that then serves as a template for evolving the

259 hesized that the combined effect of germline variants that alter the structure, expression, or functi

260 and leads to the creation of many undesired variants that can quickly outstrip screening capacity.

261 that bat cells repeatedly selected for viral variants that contained mutations in the viral open read

262 Sequence variants that exhibit high fitness in one strain can be

263 f human genetics is to identify DNA sequence variants that influence biomedical traits, particularly

264 of polycyclizations are achieved, including variants that involve powerful dearomatizations and medi

265 P2D6, HTR2A, COMT, HSPG2 and SOD2 genes have variants that may increase the odds of TD.

266 We aimed to identify new genetic variants that predispose to cirrhosis, to test whether s

267 porelief, and include two main morphological variants that reflect a behavioural continuum.

268 therapeutics and pinpoint disease-associated variants that remain poorly defined in their mechanism o

269 Of the 54 originally discordant variants that underwent further review, 32 reached agree

270 Moreover, all NOS2 variants that we found in homozygosity in public databas

271 ific genetic disorders and the proportion of variants that were inherited.

272 For two variants that were predicted to be benign, in vitro mode

273 of each individual comprises common and rare variants that, acting alone and in combination, confer r

274 arily explore the association of one related variant to CRC risk.

275 By adding these resistance variants to CARD, we are able to summarize predicted res

276 SparkINFERNO prioritizes causal variants underlying GWAS association signals and reports

277 r and A(1)R-Y288A(7.53) (a folding-deficient variant used as a reference), respectively.

278 We characterized 506 patients with ABCA4 variants using conventional genetic tools and next-gener

279 Here, we compared two splicing variants (V1, V2) of murine UHRF1 (mUHRF1) with human UH

280 with other gene pathogenic/likely pathogenic variants was similar to that of non-carriers.

281 s harbor many somatic mutations and germline variants, we hypothesized that the combined effect of ge

282 From 832 high-LD variants, we identify 39 candidate functional variants f

283 For structural variants, we present two methods of driver discovery, an

284 The NOR variants were about two to four times larger than the ma

285 Aggregated WMH risk variants were associated with altered white matter integ

286 Novel variants were evaluated by recombinant phenotyping to as

287 The large majority (89%) of missense variants were functionally neutral, perhaps unexpectedly

288 Candidate genetic variants were identified by whole-exome sequencing of 2

289 Missense CASR variants were identified in two unrelated hypocalcemic i

290 enetic analysis revealed 20 OsPLDalpha1 cDNA variants which further translated into 12 protein varian

291 We identified 451 causal variants, which underlie genetic loci known to affect ge

292 were reviewed for individuals harboring P/LP variants who were predicted to develop disease (G+).

293 rborne transmitted 100% after selection of a variant with a stabilized HA.

294 ncoded functional proteins, as did all other variants with an allele frequency greater than 0.001.

295 PqqE variants with nondestructive ligand replacements at AuxI

296 e high-risk families, and for association of variants with predicted functional impact in ~ 1300 addi

297 We hypothesized that variants with similar expression profiles may be the pro

298 ineer human cell lines expressing POLE tumor variants, with and without mismatch repair (MMR).

299 We find hundreds of variants within known cancer-related genes detectable on

300 ously expressed but are regulated by AD risk variants within myeloid enhancers in a cell type-specifi