ライフサイエンスコーパス: single nucleotide variation

1 ulation-level SAVs, and all possible SAVs by single nucleotide variations.

2 firm segregation of filtered disease-causing single nucleotide variations.

3 imer or probe hybridization inaccuracies for single nucleotide variations.

4 k score (GRS), which is a weighted sum of 23 single-nucleotide variations.

5 discover high heterozygosity and millions of single-nucleotide variations.

6 ed more than 7 million genotyped and imputed single-nucleotide variations.

7 We produce 17% more benchmark single nucleotide variations, 176% more indels and 12% l

8 This curated benchmark reports over 17,000 single-nucleotide variations, 3,600 insertions and delet

9 A single nucleotide variation (AA to AG) in LSD1 gene appe

10 d the diversity and rates of copy number and single nucleotide variation across the hominid phylogeny

11 pyrosequencing for SP-D polymorphisms of two single-nucleotide variations altering amino acids in the

12 interpret large sets of genomic variations (single nucleotide variations and insertion/deletions) an

13 by a simultaneous analysis of both intrahost single nucleotide variations and recombination events.

14 orkflow is efficient and identifies rare DNA single nucleotide variations and structural changes such

15 ides high genomic coverage, high accuracy in single-nucleotide variation and small insertions and del

16 f tumours based on the relative frequency of single-nucleotide variations and copy number alterations

17 Observed mutations included single-nucleotide variations and indels leading to frame

18 e generally structurally conserved, and that single-nucleotide variations and interactions with RNA b

19 tion, and the SCcaller software tool to call single-nucleotide variations and small insertions and de

20 S phase much more drastically than germ-line single-nucleotide variations and somatic large-scale str

21 Both single-nucleotide variations and the presence and struct

22 zed by a median of 24.5 exonic nonsynonymous single-nucleotide variations, and there was a consistent

23 Single-nucleotide variations are the most widely distrib

24 l million individuals have been genotyped on single nucleotide variation arrays, which could be used

25 om saliva- or blood-derived DNA using global single-nucleotide variations arrays.

26 Our objective was to identify single nucleotide variations associated with a risk of p

27 Percentage AGA was estimated using 21 431 single-nucleotide variations based on similarity with Af

28 In addition, single nucleotide variations between cDNAs and genomic s

29 A comparison of structural variations and single-nucleotide variations between the ancestors and c

30 ple experimental setup; and detects not only single nucleotide variations, but short insertions and d

31 r 18 nt away from the SNP, suggesting that a single-nucleotide variation can give rise to different m

32 Samples with single-nucleotide variations can be easily identified by

33 c and molecular differences of interest were single nucleotide variation, copy number alteration, DNA

34 By combining these methods, the single nucleotide variations either between two DNA pool

35 logical annotations such as protein domains, single nucleotide variations, etc.

36 at also included a large number (>45 000) of single-nucleotide variations (formerly single-nucleotide

37 l alpha subunit 5 (SCN5A) gene and 3 pivotal single-nucleotide variations (formerly single-nucleotide

38 eight individual genomes revealed that human single-nucleotide variation had significant effects on a

39 that affected skin fibroblasts carrying the single nucleotide variations have increased activation o

40 ractions, long noncoding RNA expression, and single nucleotide variation highlights a subset of speci

41 bust methods developed for detecting somatic single nucleotide variations However, detection of somat

42 previously validated PGS calculated from 10 single-nucleotide variations identified through genome-w

43 atterns of large SVs are similar to those of single nucleotide variations in 86% of the human genome,

44 ingle-tube assay to simultaneously detect 20 single nucleotide variations in a model system and 3 sin

45 plications such as evaluating the effects of single nucleotide variations in causing disease.

46 regulation and in evaluating the effects of single nucleotide variations in causing disease.

47 Efficient global scanning of single nucleotide variations in DNA sequences between re

48 and bone, which is caused by somatic mosaic single nucleotide variations in the MAP2K1 gene, which e

49 aqMan assay failed to detect 47% of possible single nucleotide variations in the probe-binding site a

50 Single-nucleotide variations in C13orf31 (LACC1) that en

51 ensive information about gene expression and single-nucleotide variations in individual tumor cells,

52 Here, we assessed how ASD-associated single-nucleotide variations in PTEN (ASD-PTEN) affect f

53 acid sequence capture target sequences with single-nucleotide variations in the beta-globin gene rel

54 Five single-nucleotide variations in the TRPC5 gene were iden

55 Fifty tumor-specific single-nucleotide variations, including KRAS(G12D), were

56 We find that the frequency of somatic single-nucleotide variations increases with replication

57 speed and accuracy across all variant types (single-nucleotide variations, insertions or deletions, s

58 Broader functional annotation of single nucleotide variations is a valuable mean for prio

59 The ratio of nonsynonymous to synonymous single-nucleotide variations is higher for cancer cells

60 Here, we show a total of 710 intra-host single nucleotide variations (iSNVs) from deep-sequenced

61 we investigated intrahost recombination and single nucleotide variations (iSNVs) on the severe acute

62 t intrahost non-homologous recombination and single nucleotide variations (iSNVs).

63 o different parasites differ between them by single nucleotide variations, known as "Single Nucleotid

64 n timing has a prominent role in shaping the single-nucleotide variation landscape of cancer cells.

65 uence the individual human genome and detect single nucleotide variations, microdeletions and duplica

66 e only having an intermediate non-synonymous single nucleotide variation mutational burden.

67 n a comprehensive analysis of non-synonymous single nucleotide variations (nsSNV) that lead to either

68 followed by identification of non-synonymous Single Nucleotide Variations (nsSNVs) and integrating th

69 Identification of non-synonymous single nucleotide variations (nsSNVs) has exponentially

70 nymous, splice site as well as stop-altering single-nucleotide variations occurring at minor allele f

71 infection and evolution in mice by comparing single nucleotide variations of a human H1N1 pandemic vi

72 This single-nucleotide variation of ARHGAP29 translates to an

73 ysicians to better understand the effects of single nucleotide variations on splicing.

74 elopment of methods to measure the impact of single-nucleotide variation on RNA structure.

75 d in reduction of both the hatching rate and single-nucleotide variations on pericentromeric heteroch

76 cessible across many individuals compared to single nucleotide variation or copy number variation.

77 ations, particularly global scanning of cDNA single nucleotide variations or polymorphisms, and final

78 , often suitable for the detection of either single-nucleotide variation or copy number aberration, b

79 In addition, a total of 28 validated somatic single-nucleotide variations or indels in coding genes,

80 BRN2 expression also correlates with a high single-nucleotide variation prevalence in human melanoma

81 Furthermore, single nucleotide variation profiles estimated using mOT

82 had rare (MAF < 0.001) predicted deleterious single-nucleotide variations (rdSNVs) in seven case subj

83 Current genotyping approaches for single-nucleotide variations rely on short, accurate rea

84 More importantly, single nucleotide variations, short insertion and deleti

85 ic alterations at multiple scales, including single nucleotide variations, small insertions and delet

86 Clustering based on human single nucleotide variation (SNV) analysis of two separa

87 from Oxford Nanopore Technologies to extend Single Nucleotide Variation (SNV)-based phasing.

88 mber alterations, loss of heterozygosity and single nucleotide variation (SNV).

89 n probes have been used for the detection of single nucleotide variations (SNV) in DNA and RNA sequen

90 d to carry a unique set of mutations such as single nucleotide variations (SNV).

91 ting 16S ribosomal RNA (rRNA) sequencing and single-nucleotide variation (SNV) and single-nucleotide

92 n with measures of genic constraint based on single-nucleotide variation (SNV) and was independently

93 This provides reliable single-nucleotide variation (SNV) detection across the s

94 pectively identify patients with AA across 8 single-nucleotide variation (SNV) genotyping batches.

95 This 2-sample MR study used individual-level single-nucleotide variation (SNV) outcome data from moth

96 called SomaMutDB to catalog the 2.42 million single nucleotide variations (SNVs) and 0.12 million sma

97 Ten single nucleotide variations (SNVs) and 2 insertion/dele

98 Since the majority of disease-related single nucleotide variations (SNVs) are found in protein

99 Single nucleotide variations (SNVs) can result in loss o

100 hough both copy number variations (CNVs) and single nucleotide variations (SNVs) detected by single-c

101 The number of somatic single nucleotide variations (SNVs) in AD brain specimen

102 ing programs have been developed to identify Single Nucleotide Variations (SNVs) in next-generation s

103 tion, 13 signature variations in the form of single nucleotide variations (SNVs) in protein coding re

104 Single nucleotide variations (SNVs) located within a rea

105 The missense single nucleotide variations (SNVs) rs142548867 in EEFSE

106 nstrate the haplotypes, i.e. the sequence of single nucleotide variations (SNVs) showing strong genet

107 oci, and all type of mutations, ranging from single nucleotide variations (SNVs) to large, complex co

108 Investigating mutations, including single nucleotide variations (SNVs), gene fusions, alter

109 HPV38(+) samples contained the same 10 novel single nucleotide variations (SNVs), leading us to hypot

110 cing and uniquely designed probes containing single nucleotide variations (SNVs), to offer a simple a

111 We identify 3564 single-nucleotide variations (SNVs) across the transcrip

112 While single-nucleotide variations (SNVs) are commonly conside

113 Single-nucleotide variations (SNVs) are, however, much h

114 However, identifying single-nucleotide variations (SNVs) can be accomplished

115 ce allelic binding predictions for 1,253,329 single-nucleotide variations (SNVs) in gnomAD that disru

116 of de novo copy number variations (CNVs) and single-nucleotide variations (SNVs) in ID, but the major

117 We detected 200 to 400 single-nucleotide variations (SNVs) per cell.

118 Furthermore, single-nucleotide variations (SNVs) selected for RNA str

119 Single-nucleotide variations (SNVs) that alter RNA secon

120 , we identified multiple intronic and exonic single-nucleotide variations (SNVs), including one mutat

121 is an open resource for tracking SARS-CoV-2 single-nucleotide variations (SNVs), lineages, and clade

122 CMs demonstrated a high burden of somatic single-nucleotide variations (SNVs), with each case cont

123 d cells, we were able to identify individual single-nucleotide variations (SNVs), with no false posit

124 5%), low-frequency (5-0.5%) and rare (<0.5%) single-nucleotide variations (SNVs).

125 ing in 106 monkeys to identify IT-associated single-nucleotide variations (SNVs).

126 trauma exposure using genome-wide variants (single-nucleotide variations [SNVs]) or polygenic scores

127 issues by examining copy number alterations, single nucleotide variations, structural variations, and

128 An HF PRS (>1 million single nucleotide variations) was used to stratify indiv

129 The average numbers of single nucleotide variations were different between the

130 romeres show at least a 4.1-fold increase in single-nucleotide variation when compared with their uni

131 Single-nucleotide variations with a minor allele frequen

132 y have abundant TSAs owing to non-synonymous single nucleotide variations within the genome.

133 chroism, we report the effect of introducing single nucleotide variations within the TGACGTCA canonic

134 Detection of single-nucleotide variations within a sequence selected

135 This probe system can distinguish single-nucleotide variations within single mRNA molecule