ライフサイエンスコーパス: diplotype

1 re assigned paired TMEM154 haplotypes (i.e., diplotypes).

2 es for subjects carrying the Delta19_G/i19_A diplotype.

3 HTT allele-specific inactivation for a given diplotype.

4 ng with their frequencies and the individual diplotype.

5 ere successfully genotyped and assigned MBL2 diplotypes.

6 is revealed further differential risk of HLA diplotypes.

7 r the efficient identification of shared ROH diplotypes.

8 typed DNA from blood samples determined COMT diplotypes.

9 notypes from noisy long reads, which we term diplotyping.

10 The GA/TA diplotype [0.376 (0.230-0.614), P = 0.002] also reduced

11 nd significant associations of clustered ROH diplotypes across the genome with various self-reported

12 4) for ALS-G, compared to persons with other diplotypes after adjusting for SNP2.

13 onsortium Guidelines, we estimated (based on diplotypes alone) that the proportion of participants in

14 Although interaction between these two diplotypes also increased risk for affective disorders,

15 a marginally significant excess of the H1/H1 diplotype among patients with Parkinson's disease (PD),

16 Diplotype analyses among nonusers of multivitamins showe

17 Individual, combination, haplotype, and diplotype analyses were done.

18 Diplotype analysis revealed a strong gene dose effect wi

19 Diplotype analysis revealed faster progression to both o

20 Diplotype analysis revealed similar results.

21 erved a robust association between the H1/H1 diplotype and PD risk (odds ratio for H1/H1 vs H1/H2 and

22 a significant (P = 0.04) interaction of COMT diplotype and time-varying stress showed that a postbase

23 The associations between MBL2 diplotypes and IPD susceptibility, serotypes, and outcom

24 There was no association between diplotypes and mortality or between diplotypes and pneum

25 between diplotypes and mortality or between diplotypes and pneumococcal serotypes.

26 oncordance rates between WES directly called diplotypes and the ones generated through statistical pr

27 embled haplotypes with respect to trio-based diplotype annotation as the ground truth.

28 lation studies of case-parents triads, whose diplotypes are simulated on the basis of draws from the

29 sis showed that ADH5 and ADH6 genotypes, and diplotypes at ADH1A, ADH1B, ADH1C and ADH7 (minimal P =

30 egion (GSTT2-22q11.23) with haplotype and/or diplotypes, but not individual SNP alleles associated wi

31 t a new method, ROH-DICE (runs-of-homozygous diplotype cluster enumerator), to find large ROH diploty

32 otype cluster enumerator), to find large ROH diplotype clusters, sufficiently long ROHs shared by a s

33 tion was limited to incident cases with COMT diplotypes coding for low-activity COMT, signifying impa

34 01-0.80) when compared with the common CC-AA diplotype (codons 486 and 1822, respectively).

35 rent CYP2A6 alleles, their numerous possible diplotype combinations and non-additive allele effects.

36 differences in trait values among different diplotype combinations.

37 ent IPD (n = 12) for children with defective diplotypes compared with cases with a single episode (OR

38 An analysis of CRY2 diplotypes confirmed these significant findings.

39 ble inheritance contributing higher positive diplotype counts than consistent with purifying hypersel

40 We found an association between a diplotype covering the homeostatic iron regulator (HFE)

41 s block and interaction between two specific diplotypes covering this block multiplicatively increase

42 Diplotype CTCAAA/CTCGTT (P = 0.005) and the interaction

43 iate analysis of the haplotype combinations (diplotypes) demonstrated that both whites (odds ratio, 0

44 We identified numerous SNPs, haplotypes, and diplotypes (diploid pairs of haplotypes) within the OCA2

45 Diplotypes for these genes explain 15% of iris color var

46 Each data set consists of haplotype pairs (diplotypes) for 20 SNPs typed at equal 50-kb intervals i

47 Two diplotype groups, carrying the haplotypes composed of th

48 rsons with the high-risk SNP6 and SNP9 AC/AC diplotype had an increased risk of 3-fold [95% confidenc

49 ts indicated that individuals with the H8-H8 diplotype had heavier body weights and faster growth rat

50 t effect of the functionally causative IFNL4 diplotype (haplotype pair, including the protein-coding

51 ot found in subjects with high-activity COMT diplotypes (hazard ratio = 1.42; 95% confidence limits:

52 incidence in subjects with low-activity COMT diplotypes (hazard ratio = 2.35; 95% confidence limits:

53 ative association between carriers of an ROH diplotype in chromosome 4 and an increase in mortality a

54 ur ROH-DICE method, by calling out large ROH diplotypes in a large outbred population, enables furthe

55 samples of marker haplotypes, genotypes, or diplotypes in case-control studies in which the markers

56 and variation of haplotypes and their pairs, diplotypes, in European population samples.

57 A predictive model that translates CYP2A6 diplotype into a single continuous variable was previous

58 IV in LC isolated from individuals with CCR5 diplotypes known to be associated with low, intermediate

59 In addition, a specific diplotype might inversely affect risk for AD and DD and

60 risk for meningitis than children with other diplotypes (odds ratio [OR], 0.85; 95% confidence interv

61 A novel diplotype of two polymorphic loci in the ABCG2 promoter

62 DTR analysis showed that ADH5 genotypes and diplotypes of ADH1A, ADH1B, ADH7, and ALDH2 were associa

63 bjects and alleles, genotypes, haplotypes or diplotypes of five tag SNPs were considered.

64 nctional variants comprising three canonical diplotypes of TAS2R38 to study the role of TAS2R38 in gl

65 haplotypes fit into two main clades and that diplotypes of these clades were marginally associated wi

66 The effect of COMT genotype (diplotype) on cognition was curvilinear, which is consis

67 We found no association between NPY diplotype or diplotype-predicted expression and neurotic

68 ults, we estimated PGx frequencies (alleles, diplotypes, phenotypes, and activity scores) for 17 phar

69 Diplotypes place genetic variants in the context of cis-

70 ound no association between NPY diplotype or diplotype-predicted expression and neuroticism.

71 ims of Zhou et al. that neuropeptide Y (NPY) diplotype-predicted expression is correlated with trait

72 in six genes for five drugs), the identified diplotypes prompted recommendation for non-standard dosi

73 approach, we generated comprehensive variant diplotypes spanning the entirety of the targeted loci an

74 mutational burden changes according to IFNL4 diplotype status.

75 Training of gene-disease-inheritance mode-diplotype tetrads in 618,290 control and affected subjec

76 ROH-DICE identified over 1 million ROH diplotypes that span over 100 single nucleotide polymorp

77 specific alleles, genotypes, haplotypes and diplotypes that were significantly associated with risk

78 t 2 and 16, respectively, when the number of diplotypes (the pair of haplotypes that compose the geno

79 cts to decrease the frequency of SCGD causal diplotypes, to reduce false positives.

80 structured association analysis, and a novel diplotype trend regression (DTR) analysis.

81 Diplotype trend regression analysis showed that ADH5 and

82 Several MMP-9 haplotype and diplotypes were associated with overall and invasive bla

83 Loss-of-function NUDT15 diplotypes were consistently associated with thiopurine

84 Children with defective diplotypes were not at higher risk for meningitis than c

85 composed of two haplotypes, otherwise called diplotypes, which denote phased polymorphisms and struct

86 of markers and are applicable to haplotypes, diplotypes, whole-genome association or candidate region

87 Successful diplotyping with short read whole genome sequencing gene