ライフサイエンスコーパス: split read

1 signatures such as read pair, read depth and split read.

2 with segemehl and many other frequently used split-read aligners.

3 nalytical methods (read depth, read pair and split read) allow the extensive characterisation of chro

4 Read-depth coverage and split-read analysis of Illumina-based whole-genome seque

5 Split-read analysis of WES data followed by breakpoint P

6 SMASH combines signals from split reads and mate-pair discordance to detect somatic

7 is complementary in a straightforward way to split-read and read-pair approaches: It misses CNVs crea

8 tures from discordant paired-end alignments, split-reads and read depth information to improve upon e

9 indelMINER uses a split-read approach to identify the precise breakpoints

10 variants that are frequently missed with the split-read approach.

11 uding discordant read-pairs, reads depth and split reads, are commonly used for SV detection from hig

12 read pairs, one-end anchors and soft-clipped/split reads, assembles them into contigs, and re-maps co

13 interrogates short-read sequencing data for split-read clusters characteristic of SV breakpoints.

14 core variants based on supporting paired and split-read evidence, with scoring models optimized for g

15 helper scripts that identify and reconstruct split reads given a sequencing summary file and alignmen

16 er types of information such as read-pair or split-read in a single analysis.

17 EpiTEome outperforms other split-read insertion site detection programs, even while

18 cient two-stage approach, which combines the split reads mapping and discordant insert size analysis.

19 The first stage is split reads mapping based on the Burrows-Wheeler transfo

20 for sequence reads either use the so-called split reads mapping for detecting deletions with exact b

21 Our split reads mapping method allows mismatches and small i

22 In this paper, we present a split-read mapping method implemented in the program SVs

23 rrent sequencing technologies, more accurate split-read mapping methods are still needed to better ha

24 ing amount of data generated, more efficient split-read mapping methods are still needed.

25 Among these approaches, split-read mapping methods can be applied on low-coverag

26 e maximum deletion size, while some existing split-read mapping methods need more memory and longer r

27 es accurate and efficient SV calling through split-read mapping within focal regions using paired-end

28 Vseq2 achieves more accurate calling through split-read mapping within focal regions.

29 fusion junctions and genomic breakpoints by split-read mapping.

30 arate files the discordant read-pairs and/or split-read mappings used for structural variant calling.

31 dict precise translocation breakpoints, and "split-read" methods may lose sensitivity if a translocat

32 nformative data (e.g. read-depth, read-pair, split-read) need be considered, and that sophisticated m

33 CNVs that it identifies are not detected by split-read or read-pair.

34 e algorithm faces the intrinsic challenge of splitting reads-oriented file formats into self-containe

35 samples and 40 human body sites, focusing on split reads partially mapping to known transcripts in an

36 We present a novel method called Sprites (SPlit Read re-alIgnment To dEtect Structural variants) w

37 SWAN also uses soft-clip/split read remapping to supplement the likelihood analys

38 Seeksv simultaneously uses split read signal, discordant paired-end read signal, re

39 Ovarian piRNA populations and Illumina split-read TE insertion profiles have been previously pr

40 e information provided by pair-end reads and split reads, TEMP is able to identify both the presence

41 inspection of an alignment of the chimaeric (split) reads that span a putative novel retroviral integ

42 akpoint locations and a bridging assembly or split read, the problem essentially reduces to finding a

43 apped read pairs, and then subsequently maps split reads to identify precise breakpoints.