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1 , or for TYK2 I684S or V362F homozygosity or heterozygosity.
2 ion, enriched at QTL and regions of residual heterozygosity.
3 expressing mice were rescued by Rpl24(Bst/+) heterozygosity.
4 r fitness in individuals with higher genomic heterozygosity.
5 on or high percentage of genome-wide loss of heterozygosity.
6 genic annotation scores, total LD scores and heterozygosity.
7 l for chromosomal rearrangements and loss of heterozygosity.
8 vidual with sporadic SRNS exhibited compound heterozygosity.
9 h allelic diversity, mainly due to very high heterozygosity.
10 d fitness as a result of reduced genome-wide heterozygosity.
11 expose deleterious mutations through loss of heterozygosity.
12 orrelating STR genotypes with local sequence heterozygosity.
13 h 1p and 16q copy number loss and/or loss of heterozygosity.
14 ce, self-incompatibility, and high levels of heterozygosity.
15 versity, pedigree analysis, and detection of heterozygosity.
16 tigmatic pollen loads, outcrossing rates and heterozygosity.
17 om the normal meiotic program that maintains heterozygosity.
18 ood of a translocated individual's survival: heterozygosity.
19 and cell-free DNA samples revealing loss of heterozygosity.
20 duals, we also explored the role of compound heterozygosity.
21 with population-level differences in genetic heterozygosity.
22 sfunction), and 4 with MYH6-FLNC synergistic heterozygosity.
23 ellite-derived host population structure and heterozygosity.
24 ained by female hemizygosity rather than low heterozygosity.
25 separate into seven groups with 0.73 to 0.79 heterozygosity.
26 strated a high level of copy-neutral loss of heterozygosity.
27 ating locus through whole-chromosome loss of heterozygosity.
28 be obtained that retain genome-wide parental heterozygosity.
29 vel copy number alterations, and HLA loss of heterozygosity.
30 tively high P. vivax genetic diversity (mean heterozygosity, 0.843 [range 0.570-0.989] with low multi
31 associated relapse (20% relapse with loss of heterozygosity, 25% with loss of imprinting, and 3.3% re
32 al congenital heart disease, 4 with compound heterozygosity (3 with systolic ventricular dysfunction)
33 mprovement have been limited because of high heterozygosity, a very large genome size with a high lev
34 uding cases with clonal copy-neutral loss-of-heterozygosity affecting class I HLA genes (8.6% of case
35 This genetic approach involves detecting heterozygosity along chromosomes in segregating populati
36 sease, we computed the regression of average heterozygosity and average allele frequency of the risk
39 we identified a positive association between heterozygosity and fitness, indicating that inbreeding i
40 mutant mice and mice with pan-cellular Tcf4 heterozygosity and found that they exhibited hippocampal
41 an, and that the relationship between higher heterozygosity and healthy aging could be explained by h
43 interaction in mouse embryos between Notch1 heterozygosity and low oxygen- or anti-arrhythmic drug-i
44 excessive genetic risk imposed by HLA-DQ2/8 heterozygosity and may assist immune monitoring of disea
45 ers and cell lines, we find frequent loss of heterozygosity and mutations in BCL9L in aneuploid tumor
46 uction of MF phylogeny demonstrating loss of heterozygosity and parallel evolution as recurrent event
49 g pollinator reliability, outcrossing rates, heterozygosity and relevant floral traits across populat
51 er relatedness-lower magnitude reductions in heterozygosity and significant reductions in allelic ric
53 how TGCTs gain additional reciprocal loss of heterozygosity and that this is associated with loss of
54 egression model trained on both X chromosome heterozygosity and Y chromosome missingness, that consis
55 nges in genetic diversity (allelic richness, heterozygosity) and the effective number of breeders (N(
56 CA mutant or BRCA wild-type and high loss of heterozygosity), and the intention-to-treat population,
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 pecific hybridization, high levels of strain heterozygosity, and prion transmission suggest that outb
62 p.Gly374Glu-DLST tumors exhibited loss of heterozygosity, and their methylation and expression pro
63 han one locus, probably driven by absence of heterozygosity (AOH) burden due to identity-by-descent (
64 hich can accelerate cellular transition from heterozygosity (ApcMin/+) to homozygosity (ApcMin/Min) t
65 t the Wrangel mammoth has a 20% reduction in heterozygosity as well as a 28-fold increase in the frac
68 Molecular tumor profiling revealed a loss of heterozygosity at GPR161 in all affected MB(SHH) tumors,
70 e (including HLA-B*15:01) or somatic loss of heterozygosity at HLA-I was associated with poor outcome
72 are haploid, with sex usually determined by heterozygosity at the complementary sex-determining locu
74 r loss of chromosome 22q, leading to loss of heterozygosity at the DGCR8 locus, was found in all 13 s
76 sporulate, but if sporulation is disabled by heterozygosity at the IME1 locus, those diploids can ent
77 ditionally, we measured immunocompetence via heterozygosity at the major histocompatibility complex (
80 enabled the study of haplotype structure and heterozygosities between homologous chromosomes, includi
81 es may be correlated with the maintenance of heterozygosity by mechanisms that rearrange genomes and
82 d with intrinsic noise reduction, regulatory heterozygosity can contribute to the suppression of extr
83 sms between homologous chromosomes, that is, heterozygosity, can influence meiotic recombination path
85 their associated copy number neutral loss of heterozygosity (CN-LOH) were identified by STR and SNP a
86 tions, duplications and copy-neutral loss of heterozygosity (CN-LOH)) on all chromosomes(1,2,5,6,9),
88 aberrations (CNAs) and copy-neutral loss of heterozygosity (cnLOH) identified by chromosome genomic-
90 ng TNFRSF14, but copy-number neutral loss of heterozygosity (CNN-LOH) of this locus was more frequent
94 rved in tumor phylogenies due to the loss of heterozygosity, deletions, and convergent evolution.
98 ith an oncogenic insult, illustrated by Pten heterozygosity, elicited lethal metastatic prostate canc
99 , there was no difference in the variance in heterozygosity estimates, suggesting that some blind ind
102 ncer chemotherapy targeting frequent loss of heterozygosity events is an attractive concept, since tu
103 rmalities, defined as copy number or loss of heterozygosity events that are large and present in only
104 argemouth bass populations had a significant heterozygosity excess, which is likely to indicate a pre
110 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
112 whole exome sequencing established compound heterozygosity for a non-conservative missense change af
114 orthologous variants and found that compound heterozygosity for all three variants recapitulated the
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
119 ities can be genetically separated, compound heterozygosity for functional complementary mutations ma
121 family UW-AP exhibited copy-neutral loss of heterozygosity for large portions of the long arm of chr
122 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 The mtrm gene is haploinsufficient, and heterozygosity for mtrm (mtrm/(+)) results in high level
128 In a case of SRPS we identified compound heterozygosity for mutations in IFT52, which encodes a c
129 keratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme
130 o different CRC patient cohorts, we detected heterozygosity for NAT2 alleles targetable by APA, along
131 l anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherite
134 ariation in humans and mice, we predict that heterozygosity for R36C, G175R, R17S, and R17H will prov
135 Among the extensive miR-124 target network, heterozygosity for targets in the BMP pathway substantia
136 This study provides strong evidence that heterozygosity for the c.643_663del21 deletion in CAPN3
138 n of GJB2 encoding connexin (Cx) 26 revealed heterozygosity for the recurrent de novo germline mutati
141 iation in at least two ways - by fixation of heterozygosity from diploid progenitors in allopolyploid
143 expected, the partial contribution to total heterozygosity gave high priority to Criollo pig breeds,
147 nonneoplastic proliferation, albeit loss of heterozygosity has long been reported in a part of these
148 ot support the existence of founder effects: heterozygosity (He = 0.667) and allelic richness (Ar = 4
150 ge observed heterozygosity (Ho) and expected heterozygosity (He) in these highly inbred lines were 0.
151 ion in Eswatini was highly diverse (expected heterozygosity [HE] = 0.75) and complex: 67% polyclonal
152 ss 11 datasets in terms of SNP polymorphism, heterozygosity/heterogeneity, diversity indices, concord
153 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 of epistatic QTL overlap regions of residual heterozygosity identified in the inbred parental parent
160 nges in tissue organisation that result from heterozygosity in Apc, a precancerous situation, are com
163 ergence between parents has been retained as heterozygosity in functionally asexual species, and that
167 d ongoing immunoediting, with either loss of heterozygosity in human leukocyte antigens or depletion
170 ef2c-Het phenotypes, while conditional Mef2c heterozygosity in microglia reproduced social deficits a
172 me, which are important to identify compound heterozygosity in recessive Mendelian diseases and disco
173 the effect on B-cell function of TACI A181E heterozygosity in reportedly healthy subjects and of the
176 in allelic richness, and showed an excess in heterozygosity in the Cu- and Zn-selected populations co
177 tion, coding SNPs with the highest excess of heterozygosity in the healthy-aged cohort are enriched i
179 fied somatic mutations combined with loss-of-heterozygosity in the splicing factor SUGP1 in five of t
180 xual species, and that genome-wide levels of heterozygosity in these asexuals largely reflects the di
182 or WGD in tumor types with extensive loss of heterozygosity, including lung squamous cell carcinoma a
188 pressor, and its inactivation due to loss of heterozygosity is associated with cancers of different o
189 Our results demonstrate that the genomic heterozygosity is associated with human healthspan, and
190 we tested the hypothesis that CHEK2*1100delC heterozygosity is associated with increased risk for oth
192 amino acid changing heterozygosity to silent heterozygosity is higher in dogs than in wolves and, on
194 rs and to determine to what extent increased heterozygosity is preserved after genetic recombination
197 imating runs of homozygosity and genome-wide heterozygosity levels are generally sensitive to such li
198 = 0.002), and increased frequency of loss of heterozygosity (LOH) across the genome (median 913 vs. 4
199 els), copy-number variations (CNVs), loss of heterozygosity (LOH) and complex rearrangements, such as
200 g in copy number variation (CNV) and loss of heterozygosity (LOH) are frequently observed during the
203 with stage III FHWT without combined loss of heterozygosity (LOH) at chromosomes 1p and 16q treated i
204 ithelial cell model and show that 8p loss of heterozygosity (LOH) attenuates the action of several ge
205 tudied the frequency and location of loss-of-heterozygosity (LOH) events on chromosome III in Sacchar
206 housands of non-driver genes undergo loss of heterozygosity (LOH) events per tumor, generating discre
210 served point mutations, deletions or loss of heterozygosity (LOH) in beta-2-microglobulin (B2M), an e
212 occurrence of bursts of genome-wide loss-of-heterozygosity (LOH) in Saccharomyces cerevisiae, provid
213 to 9.53 months]); and BRCA wild-type/loss of heterozygosity (LOH) low patient subgroup (107 rucaparib
214 1 and BRCA2 (BRCA) mutations genomic loss of heterozygosity (LOH) might also represent homologous rec
215 eages revealed a diverse spectrum of loss-of-heterozygosity (LOH) signatures characterized by interst
217 issue-specific, large copy-number or loss-of-heterozygosity (LOH) variants involving multiple Shh gen
218 he allelic shift signal measures the loss-of-heterozygosity (LOH) which is valuable for CNV identific
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 s in one TP53 allele are followed by loss-of-heterozygosity (LOH), so tumors express only mutant p53.
225 fine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, arch
227 This effect was enhanced for a compound heterozygosity marker constructed from four pre-selected
229 rected for CN in aneuploid regions), loss of heterozygosity, megabase-scale phased haplotypes often s
230 eterozygosity, combined with offspring DHCR7 heterozygosity might represent a vulnerability factor to
231 and losses, and several copy neutral loss-of-heterozygosity mutations at a genome-wide level, includi
232 ch, due to chromosomal deletions and loss of heterozygosity, necessitate the development of inference
233 f wild-type TRPC6 and TRPC6 G757D, mimicking heterozygosity observed in patients, revealed a dominant
235 4q32 amplification, and copy-neutral loss of heterozygosity of 9p were gained in the B-LBL cells.
238 parib pretreatment, PARP1 knockdown or Parp1 heterozygosity of Brca2(cko/ko) mouse embryonic stem cel
239 tumors revealed somatic copy-neutral loss of heterozygosity of chromosome 1q as the hallmark characte
240 5 (NWTS-5), tumor-specific combined loss of heterozygosity of chromosomes 1p and 16q (LOH1p/16q) was
243 re a hallmark of NF1 and result from loss of heterozygosity of NF1 in Schwann cells, leading to const
246 presentation caused by mutations or loss of heterozygosity of the major histocompatibility complex c
248 re, all tumors displayed concomitant loss of heterozygosity of Trp53 and Pten along with frequent amp
250 of KRAS and PIK3CA and mutation and loss of heterozygosity of tumor suppressor genes, such as APC an
251 ver, haplotype divergence in regions of high heterozygosity often results in assemblers creating two
253 correlations, we investigated the effect of heterozygosity on six diverse fitness measures (ulna len
254 that genetic predisposition to pB-ALL (Pax5 heterozygosity or ETV6-RUNX1 fusion) shaped a distinct g
255 ethnicity (OR: 1.8; P = 0.001) and HFE C282Y heterozygosity (OR: 1.9; P = 0.003) were associated with
256 ly, we did not observe enrichment for P1104A heterozygosity, or for TYK2 I684S or V362F homozygosity
257 fidence interval for the genome-wide rate of heterozygosity outside of such regions from modern genom
258 rected for aneuploidy), regions with loss of heterozygosity, phased haplotypes extending to entire ch
259 slocated tortoises and found that individual heterozygosity predicted tortoise survival, whereas tran
260 or performance status score, age, 1p loss of heterozygosity, presence of oligodendroglial elements, a
262 f the F(ST) divergence statistic, their high heterozygosities produce greater ancestry inference pote
264 rom 6 to 24 per locus, observed and expected heterozygosity ranged from 0.133 to 0.9 and 0.183 to 0.9
266 eristics of a genome, including genome size, heterozygosity rate and repeat content from unprocessed
268 which substantially improves the estimate of heterozygosity rates both genome-wide and for genomic lo
270 pseudo-diploid yeast genomes with different heterozygosity rates, and real data from human chromosom
272 polygenic score, runs of homozygosity (ROH)/heterozygosity ratio, distant pedigree computation, and
276 780CP/Cl-24 cells, which express loss of p53 heterozygosity, retained the p53(V172F) mutation and hig
277 rs12203592, P=1.8 x 10(-27)), MC1R (compound heterozygosity score, P=2.3 x 10(-24)), and RALY/ASIP (r
278 ence in GWAS that assesses only X chromosome heterozygosity, seXY achieved marginally better male cla
279 stricted to neurons by these miRNAs, and its heterozygosity strongly suppresses ectopic peripheral ne
280 ilocus genotype assignment and interspecific heterozygosity suggest incomplete reproductive isolation
283 sion or loss, somatic mutagenesis or loss-of-heterozygosity (the first three also in a tumor-specific
285 total linkage disequilibrium (LD) scores and heterozygosity to construct enrichment scores for improv
286 e find that the ratio of amino acid changing heterozygosity to silent heterozygosity is higher in dog
289 and reciprocal deletions (reciprocal loss of heterozygosity), variations that are significantly enric
290 rrent study investigated whether greater MHC heterozygosity was associated with markers of slower lif
291 ns and to previously published findings, MHC heterozygosity was not related to any of the psychologic
294 thm, parameter, and biological sequence data heterozygosity, we highlight the need for better measure
295 osomes 13q and 13q, and copy-neutral loss of heterozygosity) were between two and six times less comm
296 ) such aneuploidies have resulted in loss of heterozygosity, where a chromosomal region is represente
297 a germline FAS mutation and somatic loss-of-heterozygosity, which allows comparing the fate of B cel
298 y organism and show large regions of loss of heterozygosity, which we hypothesise to be a short-term
299 ed study of the associations of CCR5-Delta32 heterozygosity with human immunodeficiency virus type 1