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

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

2 imer or probe hybridization inaccuracies for single nucleotide variations.

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

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

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

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

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

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

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

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

11 Both single-nucleotide variations and the presence and struct

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

13 Single-nucleotide variations are the most widely distrib

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

41 This single-nucleotide variation of ARHGAP29 translates to an

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

58 Single nucleotide variations (SNVs) located within a rea

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

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

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

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

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

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

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

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

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

68 Detection of single-nucleotide variations within a sequence selected