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1 roduct (or two genetic variants for compound heterozygosity).
2 on or high percentage of genome-wide loss of heterozygosity.
3 tigmatic pollen loads, outcrossing rates and heterozygosity.
4 l for chromosomal rearrangements and loss of heterozygosity.
5 om the normal meiotic program that maintains heterozygosity.
6 and cell-free DNA samples revealing loss of heterozygosity.
7 duals, we also explored the role of compound heterozygosity.
8 idence of other somatic mutations or loss of heterozygosity.
9 where human cancers frequently show loss of heterozygosity.
10 genic annotation scores, total LD scores and heterozygosity.
11 and evolution toward permanent translocation heterozygosity.
12 vidual with sporadic SRNS exhibited compound heterozygosity.
13 ss closely related and showed a low level of heterozygosity.
14 We also assessed APC gene loss of heterozygosity.
15 -promoting repair pathways, prevents loss of heterozygosity.
16 determining homozygous deletions and loss of heterozygosity.
17 cytological mechanism retains high levels of heterozygosity.
18 itutions appear attributable to variation in heterozygosity.
19 tions with limited branching through loss of heterozygosity.
20 h allelic diversity, mainly due to very high heterozygosity.
21 d fitness as a result of reduced genome-wide heterozygosity.
22 expose deleterious mutations through loss of heterozygosity.
23 orrelating STR genotypes with local sequence heterozygosity.
24 h 1p and 16q copy number loss and/or loss of heterozygosity.
25 ce, self-incompatibility, and high levels of heterozygosity.
26 versity, pedigree analysis, and detection of heterozygosity.
27 number of alleles (2.1 to 2.9) and observed heterozygosities (0.330 to 0.388) per vineyard-sites.
28 S. commersonii shows a striking reduction in heterozygosity (1.5% versus 53 to 59%), and differences
29 associated relapse (20% relapse with loss of heterozygosity, 25% with loss of imprinting, and 3.3% re
30 that such females have significantly higher heterozygosity (a measure of within-individual genetic v
31 otype, and combined Ripk3 deletion and Casp8 heterozygosity almost completely suppressed it, even res
32 This genetic approach involves detecting heterozygosity along chromosomes in segregating populati
33 with reduced Oct4 expression resulting from heterozygosity also exhibit a stabilized pluripotent sta
34 ngle population, every standard deviation of heterozygosity an individual has over the mean decreases
35 equencing to accurately estimate genome-wide heterozygosity, an approach transferrable to any organis
36 homozygous after copy number-neutral loss-of-heterozygosity and amplified through a chromosomal gain;
37 sease, we computed the regression of average heterozygosity and average allele frequency of the risk
40 mutant mice and mice with pan-cellular Tcf4 heterozygosity and found that they exhibited hippocampal
41 pecific hybrids often increase the levels of heterozygosity and hybrid vigor, but some interspecific
42 excessive genetic risk imposed by HLA-DQ2/8 heterozygosity and may assist immune monitoring of disea
43 d varieties, respectively, and discover high heterozygosity and millions of single-nucleotide variati
44 ers and cell lines, we find frequent loss of heterozygosity and mutations in BCL9L in aneuploid tumor
45 ic stability in all species, with no loss of heterozygosity and no shifts in allele frequencies over
48 g pollinator reliability, outcrossing rates, heterozygosity and relevant floral traits across populat
49 mphomas at higher incidence with p53 loss-of-heterozygosity and severe genome aneuploidy, suggesting
51 how TGCTs gain additional reciprocal loss of heterozygosity and that this is associated with loss of
52 urther characterize the link between loss of heterozygosity and the typical CALMs that appear over th
53 egression model trained on both X chromosome heterozygosity and Y chromosome missingness, that consis
55 CA mutant or BRCA wild-type and high loss of heterozygosity), and the intention-to-treat population,
56 A homozygosity, 35% of SD patients having AG heterozygosity, and 56% of SD patients having GG homozyg
57 of evidence of activating mutations, loss of heterozygosity, and a mass forming proliferation, we pro
58 996 knockouts are strongly enhanced by Notch heterozygosity, and activated nuclear Notch is impaired
59 ony membership, mother-offspring similarity, heterozygosity, and genetic relatedness are all chemical
60 be protective against TALEN-induced loss of heterozygosity, and indeed Apc gene editing was less eff
61 pecific hybridization, high levels of strain heterozygosity, and prion transmission suggest that outb
62 novo variant calling, inference of compound heterozygosity, and the identification of inheritance an
63 d, these results illustrate that genome-wide heterozygosity, and therefore HFCs, are best measured by
64 ed regions of copy-number-neutral absence of heterozygosity (AOH) in subjects with multiple congenita
65 SNPs had similar correlations to genome-wide heterozygosity as microsatellites in both populations.
66 t the Wrangel mammoth has a 20% reduction in heterozygosity as well as a 28-fold increase in the frac
67 oci are needed to adequately measure genomic heterozygosity assuming different levels of identity dis
73 e (including HLA-B*15:01) or somatic loss of heterozygosity at HLA-I was associated with poor outcome
74 f chromosomes from each parent, with loss of heterozygosity at some loci, and uniparental retention o
78 t tumors revealed that 23% displayed loss of heterozygosity at the SPEN locus and that 3% to 4% harbo
83 enabled the study of haplotype structure and heterozygosities between homologous chromosomes, includi
84 es may be correlated with the maintenance of heterozygosity by mechanisms that rearrange genomes and
85 d with intrinsic noise reduction, regulatory heterozygosity can contribute to the suppression of extr
86 sms between homologous chromosomes, that is, heterozygosity, can influence meiotic recombination path
89 ad evidence of acquired copy-neutral loss of heterozygosity (CN-LOH) of chromosome 1p in granulocytes
92 ng TNFRSF14, but copy-number neutral loss of heterozygosity (CNN-LOH) of this locus was more frequent
98 Msh3/p53 tumors showed increased loss of heterozygosity, elevated genome-wide copy-number variati
99 , there was no difference in the variance in heterozygosity estimates, suggesting that some blind ind
101 rmalities, defined as copy number or loss of heterozygosity events that are large and present in only
104 10 microsatellites have been used to uncover heterozygosity fitness correlations (HFCs) for a wealth
107 nowledge, the first report of an increase in heterozygosity following multigenerational exposure to m
109 s a common phenomenon and is correlated with heterozygosity for a frequent variant in the 3' untransl
111 erase chain reaction, we identified compound heterozygosity for a maternal splicing variant (chr5:601
113 whole exome sequencing established compound heterozygosity for a non-conservative missense change af
115 nificant increase in segregation errors, and heterozygosity for an smc1 deletion enhanced this phenot
116 ssels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epiderma
120 family UW-AP exhibited copy-neutral loss of heterozygosity for large portions of the long arm of chr
121 is required for embryonic survival and that heterozygosity for LoF variants of Arhgap29 increases th
126 utosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH
127 In a case of SRPS we identified compound heterozygosity for mutations in IFT52, which encodes a c
128 keratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme
129 l anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherite
130 gs demonstrate that homozygosity or compound heterozygosity for null mutations of FIG4 is responsible
131 ariation in humans and mice, we predict that heterozygosity for R36C, G175R, R17S, and R17H will prov
132 cardiomyopathy, this study reveals compound heterozygosity for recessive MYH6 mutations in patients
133 is, because disease onset was accelerated by heterozygosity for Suz12 or by short hairpin RNA-mediate
134 Among the extensive miR-124 target network, heterozygosity for targets in the BMP pathway substantia
135 This study provides strong evidence that heterozygosity for the c.643_663del21 deletion in CAPN3
137 or genetic risk factors such as steatosis or heterozygosity for the HAMP non-sense mutation p.Arg59*
139 , in a background of either wild-type Gba or heterozygosity for the L444P GBA mutation associated wit
140 263+1G --> A) in the 3 symptomatic siblings, heterozygosity for the mutation in the 2 parents, and no
141 n of GJB2 encoding connexin (Cx) 26 revealed heterozygosity for the recurrent de novo germline mutati
145 epistatic variance depends critically on the heterozygosity, for models where frequencies are widely
147 enital amaurosis than predicted based on its heterozygosity frequency in the European American popula
149 expected, the partial contribution to total heterozygosity gave high priority to Criollo pig breeds,
152 nonneoplastic proliferation, albeit loss of heterozygosity has long been reported in a part of these
153 ies: sickle cell trait (HbAS) 220 (14%), HbC heterozygosity (HbAC) 103 (7%), alpha thalassaemia 438 (
154 ns, each accession still possesses extensive heterozygosity, highlighting the inherent differences be
155 homologous recombination deficiency-loss of heterozygosity/homologous recombination deficiency-large
157 que genetic flatlining that is punctuated by heterozygosity hotspots, enriched for olfactory receptor
158 mbination deficiency was assessed by loss of heterozygosity (HRD-LOH) in pretreatment core breast bio
161 ene that has been shown to undergo a loss of heterozygosity in 40-75% of human breast, ovarian, and p
162 s (16%) had a complex genotype with compound heterozygosity in 7 and digenic heterozygosity in 14.
165 nges in tissue organisation that result from heterozygosity in Apc, a precancerous situation, are com
167 ata also provided the opportunity to analyze heterozygosity in crocodilians, which indicates a likely
168 results underscore the significance of mDia1 heterozygosity in deregulated innate immune responses in
172 As few as ten SNPs are capable of revealing heterozygosity in more than 97% of European HD subjects.
173 havior is recapitulated by recurrent loss of heterozygosity in multiple metabolic genes adjacent to V
176 e screened for somatic mutations and loss of heterozygosity in mutL homolog 1 (MLH1) and mutS homolog
177 t kidney, one from the right) showed loss of heterozygosity in one tumor, and four different TSC2 poi
178 o predict the optimal variants for capturing heterozygosity in personalized allele-specific gene-sile
179 the effect on B-cell function of TACI A181E heterozygosity in reportedly healthy subjects and of the
180 ltaneously deletes one copy of BAP1, loss of heterozygosity in the corresponding Vhl region in the mo
181 in allelic richness, and showed an excess in heterozygosity in the Cu- and Zn-selected populations co
183 n particular, somatic mutations with loss of heterozygosity in TP53 were strongly associated with leu
184 ncoded in 16q24.3 for which there is loss of heterozygosity in various solid tumors, is responsible f
185 a germ line FAS mutation and somatic loss of heterozygosity, in whom biallelic mutant cells can be tr
186 ith tumour formation in the context of Trp53 heterozygosity, including AB041803 and the Jun dimerizat
188 ly 110 years of captivity, revealing reduced heterozygosity, increased inbreeding, and variable intro
189 with 14,585 SNPs, the deviance explained by heterozygosity increasing almost fivefold to a remarkabl
192 we tested the hypothesis that CHEK2*1100delC heterozygosity is associated with increased risk for oth
194 amino acid changing heterozygosity to silent heterozygosity is higher in dogs than in wolves and, on
198 cy, providing an explanation for why loss of heterozygosity is not required for the development of Po
199 rs and to determine to what extent increased heterozygosity is preserved after genetic recombination
202 = 0.002), and increased frequency of loss of heterozygosity (LOH) across the genome (median 913 vs. 4
205 with stage III FHWT without combined loss of heterozygosity (LOH) at chromosomes 1p and 16q treated i
206 ithelial cell model and show that 8p loss of heterozygosity (LOH) attenuates the action of several ge
207 tudied the frequency and location of loss-of-heterozygosity (LOH) events on chromosome III in Sacchar
211 served point mutations, deletions or loss of heterozygosity (LOH) in beta-2-microglobulin (B2M), an e
212 ); Cdk4(-/-) mice showed no signs of loss of heterozygosity (LOH) in the Men1 locus, whereas tumors i
213 1 and BRCA2 (BRCA) mutations genomic loss of heterozygosity (LOH) might also represent homologous rec
215 est events, followed by deletions or loss of heterozygosity (LOH) of chromosomes carrying TP53, BRCA1
216 h recombination events often lead to loss of heterozygosity (LOH) of SNPs that are centromere distal
218 issue-specific, large copy-number or loss-of-heterozygosity (LOH) variants involving multiple Shh gen
219 A2 allele (absence of locus-specific loss of heterozygosity (LOH)) is observed in 7% of BRCA1 ovarian
220 heterozygous deletions, copy-neutral loss-of-heterozygosity (LOH), allele-specific gains/amplificatio
221 d information of copy number status, loss of heterozygosity (LOH), and event break points, which is e
222 rsions, subtelomeric hypervariation, loss of heterozygosity (LOH), and whole or partial chromosome an
224 s in one TP53 allele are followed by loss-of-heterozygosity (LOH), so tumors express only mutant p53.
225 on of HR in G1 cells can lead to the loss-of-heterozygosity (LOH), which is potentially carcinogenic.
228 fine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, arch
230 This effect was enhanced for a compound heterozygosity marker constructed from four pre-selected
232 y also suggest that under some circumstances heterozygosity may explain far more variation in fitness
233 dance between the inbreeding coefficient and heterozygosity measured at 13,198 single-nucleotide poly
234 and losses, and several copy neutral loss-of-heterozygosity mutations at a genome-wide level, includi
235 ch, due to chromosomal deletions and loss of heterozygosity, necessitate the development of inference
236 Recent murine studies demonstrate that Nf1 heterozygosity (Nf1(+/-)) in monocytes/macrophages signi
237 f wild-type TRPC6 and TRPC6 G757D, mimicking heterozygosity observed in patients, revealed a dominant
239 4q32 amplification, and copy-neutral loss of heterozygosity of 9p were gained in the B-LBL cells.
242 parib pretreatment, PARP1 knockdown or Parp1 heterozygosity of Brca2(cko/ko) mouse embryonic stem cel
243 ltamir females, and substantially rescued by heterozygosity of Deltamir targets, especially within th
245 tion, which is frequently caused by compound heterozygosity of low-frequency promoter deletions in co
247 Deltaexon3/+) BALB/c mice to develop SCC, as heterozygosity of p63 but not p53 prevents them from dev
254 of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC an
257 correlations, we investigated the effect of heterozygosity on six diverse fitness measures (ulna len
259 splaying a mild disease progression, whereas heterozygosity or homozygosity for the major alleles (CT
260 ethnicity (OR: 1.8; P = 0.001) and HFE C282Y heterozygosity (OR: 1.9; P = 0.003) were associated with
262 or performance status score, age, 1p loss of heterozygosity, presence of oligodendroglial elements, a
263 f the F(ST) divergence statistic, their high heterozygosities produce greater ancestry inference pote
264 oma (OSCC) samples in the absence of loss-of-heterozygosity, promoter methylation, and mutations, we
265 Additionally, the estimation of observed heterozygosity provides support for the hypothesis that
266 rom 6 to 24 per locus, observed and expected heterozygosity ranged from 0.133 to 0.9 and 0.183 to 0.9
268 eristics of a genome, including genome size, heterozygosity rate and repeat content from unprocessed
271 780CP/Cl-24 cells, which express loss of p53 heterozygosity, retained the p53(V172F) mutation and hig
272 rs12203592, P=1.8 x 10(-27)), MC1R (compound heterozygosity score, P=2.3 x 10(-24)), and RALY/ASIP (r
273 ence in GWAS that assesses only X chromosome heterozygosity, seXY achieved marginally better male cla
276 stricted to neurons by these miRNAs, and its heterozygosity strongly suppresses ectopic peripheral ne
277 s in chromosomal copy number and patterns of heterozygosity, suggesting complex and heterogeneous gen
278 utation in a MMR gene, with possible loss of heterozygosity that could lead to MMR deficiency, 6 were
279 CTVT first arose in a dog with low genomic heterozygosity that may have lived about 11,000 years ag
280 sion or loss, somatic mutagenesis or loss-of-heterozygosity (the first three also in a tumor-specific
281 total linkage disequilibrium (LD) scores and heterozygosity to construct enrichment scores for improv
282 nulocytes, consistent with a transition from heterozygosity to homozygosity for the MPL mutation in c
283 e find that the ratio of amino acid changing heterozygosity to silent heterozygosity is higher in dog
285 and reciprocal deletions (reciprocal loss of heterozygosity), variations that are significantly enric
292 rs measured by chiasmata were unchanged when heterozygosity was varied, consistent with homeostatic c
293 ) such aneuploidies have resulted in loss of heterozygosity, where a chromosomal region is represente
294 a germline FAS mutation and somatic loss-of-heterozygosity, which allows comparing the fate of B cel
295 y organism and show large regions of loss of heterozygosity, which we hypothesise to be a short-term
296 r, is described in 13 patients, including in heterozygosity with ABCB4(A286V), ABCB4(A953D), and null
297 ed study of the associations of CCR5-Delta32 heterozygosity with human immunodeficiency virus type 1
299 -somatic copy number alterations and loss of heterozygosity-within a unified probabilistic framework.
300 ity for exon 1 mutations [YO/YO] or compound heterozygosity [XA/YO]; YA/YO and XA/XA genotypes were d
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