ライフサイエンスコーパス: noncoding variant

1 HLA alleles can sometimes be secondary to a noncoding variant.

2 its have mainly identified associations with noncoding variants.

3 e region but identified several nonconserved noncoding variants.

4 ing annotation to predict the impact of rare noncoding variants.

5 mic annotation to predict the impact of rare noncoding variants.

6 xon-only to whole-gene analyses that contain noncoding variants.

7 We identify association with a noncoding variant 151 kb from the gene encoding the card

8 Collectively, conserved noncoding variants affect BP to a greater extent than mi

9 risk in humans, it remains unclear how these noncoding variants affect disease etiology.

10 ically test hypotheses about the function of noncoding variants and haplotypes at the scale needed fo

11 scuss several leading methods for annotating noncoding variants and how they can be integrated into r

12 f alternative mutational mechanisms, such as noncoding variants and non-X-linked disease, which might

13 all classes of genetic variation (including noncoding variants) and accompanying phenotypes, in appa

14 of the genome may be incomplete because many noncoding variants are associated with disease.

15 These results highlight that rare noncoding variants are important contributors to individ

16 Thus, conserved noncoding variants are more likely to be functional.

17 ide association studies have identified many noncoding variants associated with common diseases and t

18 ies of gene regulation and interpretation of noncoding variants associated with human disease.

19 best available methods in identifying human noncoding variants associated with inherited diseases.

20 However, in the general population, common noncoding variants at a chromosome 1q locus are the most

21 Noncoding variants at human chromosome 9p21 near CDKN2A

22 ed with genome-wide significance linked with noncoding variants at the PRSS1-PRSS2 locus on chromosom

23 AVA), a tool that supports prioritization of noncoding variants by integrating various genomic and ep

24 nt hypothesis offers a new paradigm by which noncoding variants can confer susceptibility to common t

25 tly alter gene expression: most (88.3%) were noncoding variants enriched at enhancers and other regul

26 VAAST can score both coding and noncoding variants, evaluating the cumulative impact of

27 licability of this tool to the annotation of noncoding variants from 69 full sequenced genomes as wel

28 Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes r

29 tic code, but determining the impact of rare noncoding variants has been more challenging.

30 approaches for functional assessment of most noncoding variants has bottlenecked gene discovery.

31 ns can help prioritize functionally relevant noncoding variants identified by GWAS.

32 ogies bring new challenges, as the number of noncoding variants identified per individual can be over

33 identified a previously unrecognized common, noncoding variant in CFH, the gene encoding complement f

34 ssociation peak we found was at rs3129882, a noncoding variant in HLA-DRA.

35 Noncoding variants in 5-hydroxytryptamine (serotonin) re

36 Finally, we genotyped 37 missense and common noncoding variants in 6591 EAs and in 6521 individuals (

37 ource for investigating the pathogenicity of noncoding variants in human erythroid disorders.

38 e combined evidence of association with rare noncoding variants in IL12RB1 remained significant (p =

39 thma susceptibility was predominantly due to noncoding variants in sequences flanking the exons, alth

40 Two hundred fourteen noncoding variants in strong linkage disequilibrium (r(2

41 y the genetic effect of coding and conserved noncoding variants in syndromic hypertension genes on sy

42 Noncoding variants in the human MIR137 gene locus increa

43 ns of mixed European descent have identified noncoding variants in the MYLIP region as being associat

44 Recently, common noncoding variants in the TCF7L2 gene were strongly asso

45 In this study, we functionally analyzed noncoding variants in this gene as likely pathological c

46 Identifying functional effects of noncoding variants is a major challenge in human genetic

47 logy and disease, but recognizing functional noncoding variants is difficult.

48 We have shown previously that noncoding variants mapping around a specific set of 170

49 ata to estimate and visualize the effects of noncoding variants on transcription factor binding.

50 iation signal between fasting proinsulin and noncoding variants (p = 7.4 x 10(-50)).

51 Noncoding variants play a central role in the genetics o

52 study identified a single locus harboring 25 noncoding variants (r(2) > 0.7 with the lead GWAS varian

53 This approach identified a noncoding variant, rs1990620, that differentially recrui

54 nt, rs699738 (c.798C>A [p.His266Gln]), and a noncoding variant, rs624988, reside on distinct haplotyp

55 TCF7L2 (transcription factor 7-like 2 gene) noncoding variant (rs7903146 T at-risk allele) was stron

56 rrant splicing in DONSON due to one of these noncoding variants, showing a causative role for DONSON

57 Despite the importance suggested by many noncoding variants statistically associated with human d

58 the existence of a large complement of human noncoding variants that may impact gene expression and p

59 n R1467H in ARHGEF11, and several additional noncoding variants that were in high linkage disequilibr

60 understanding of the contribution of common noncoding variants to leprosy susceptibility, protein-co

61 r disease risk variants, linking hundreds of noncoding variants to putative gene targets.

62 However, on pooling all coding and noncoding variants, we identified at least 5 loci (AGT,

63 linemia in Pima Indians, missense and common noncoding variants were analyzed in individuals living i

64 hough the molecular mechanisms linking these noncoding variants with obesity are not immediately obvi

65 over the first functional evidence of common noncoding variants with potential implications for the p

66 Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal reg