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1 ylation status of adjacent CpG sites on long sequencing reads.
2 tions multiple kilobases apart directly from sequencing reads.
3 can be ascertained merely by generating more sequencing reads.
4 n essential step in most analysis done using sequencing reads.
5 e because of the sparseness and shortness of sequencing reads.
6 ed analysis toolkit for processing bisulfite sequencing reads.
7 tained by de novo assembly of 35,757,567 raw sequencing reads.
8 l assembly method that scales to millions of sequencing reads.
9 tification of genomic alterations from short sequencing reads.
10 address the ambiguities caused by repetitive sequencing reads.
11 nt allele fractions from possibly duplicated sequencing reads.
12 weight algorithms for efficiently processing sequencing reads.
13 mputing CpG methylation states on individual sequencing reads.
14 volume data, such as aligned next-generation sequencing reads.
15 s Mendelian transmission information and raw sequencing reads.
16 e only exome genotypes and ignore off-target sequencing reads.
17 rearrangements are readily detected from DNA sequencing reads.
18 Model or assemble haplotypes by overlapping sequencing reads.
19 is a challenge with short- and medium-length sequencing reads.
20 genes-information that is orthogonal to the sequencing reads.
21 ools that generate synthetic next-generation sequencing reads.
22 ng next-generation, short-insert, paired-end sequencing reads.
23 izing multiple-type sensitivity with minimal sequencing reads.
24 oped to detect DNA methylation from nanopore sequencing reads.
25 ols demands simulators to generate realistic sequencing reads.
26 immune infiltrate and presence of bacterial sequencing reads.
27 an other tools utilizing shotgun metagenomic sequencing reads.
28 ask of identifying the origin species of DNA sequencing reads.
29 from C57BL/6 genomic DNA using only 200 000 sequencing reads.
30 expression due to the uneven distribution of sequencing reads.
31 th highly degraded DNA samples or ultrashort sequencing reads.
32 rence genomes with abnormal pileups of short sequencing reads.
33 ies are spurious artifacts of clustering 16S sequencing reads.
34 detect DNA methylation states from Nanopore sequencing reads.
35 collections of pre-phased variants and long sequencing reads.
36 nerated 710 datasets constituting 57 billion sequencing reads.
37 heterozygous polyploids from Illumina short-sequencing reads.
38 and plasmids was achieved using 100,000 raw sequencing reads.
39 cluding pathogens amid the plethora of human sequencing reads.
40 samples may contain 20-80% of mitochondrial sequencing reads.
41 A sequencing and <20 h for processing of raw sequencing reads.
42 LTR_retriever is also compatible with long sequencing reads.
43 phisms into viral haplotypes from very short sequencing reads.
44 ents retains long-range information in short sequencing reads.
45 vel reference-free approach to analyze short sequencing reads.
46 involve hundreds of samples and billions of sequencing reads.
47 cultivar Khalas) and acquired 15,778,993 raw sequencing reads-about one million sequencing reads per
49 nome bisulphite sequencing, as 70-80% of the sequencing reads across these data sets provided little
50 Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such
51 axonomic classification method that compares sequencing reads against a microbial genome database.
58 g DuploMap-aligned PacBio circular consensus sequencing reads, an additional 8.9 Mb of DNA sequence w
59 quantification from short-read transcriptome sequencing reads, an R library for data visualization, a
60 ing individual investigators with integrated sequencing reads analysis, curation, and manipulation ca
62 echnologies, such as the short length of the sequencing reads and absence of mate-pair information.
63 bonobo and orangutan Ys from short and long sequencing reads and aligned them with the publicly avai
64 Burrows-Wheeler Transform (BWT) index of the sequencing reads and an indexed database of microbial re
66 contamination based on (1) a combination of sequencing reads and array-based genotype data, (2) sequ
67 data by mapping antigen receptor segments to sequencing reads and assembling the clonotypes, most of
68 teps necessary to process a large set of raw sequencing reads and create lists of gene transcripts, e
73 dual cells with a relatively small number of sequencing reads and that sequencing large numbers of si
74 tion process into two steps: the assembly of sequencing reads and the alignment of the resulting cont
75 both the incomplete information provided by sequencing reads and the nature of the genome itself.
76 ces was extended to apply to high-throughput sequencing reads and the strategies to estimate the corr
77 uired to separate sequin- and sample-derived sequencing reads and to evaluate the diagnostic performa
78 detected by evaluating a library of 402,554 sequencing reads and was later confirmed by Sanger seque
79 to report the potential loci of origin of a sequencing read, and not the base-to-base alignment by w
80 to sequence bias: GC content, mappability of sequencing reads, and regional biases that might be gene
81 om short sequence stretches, e.g. translated sequencing reads, and, thus, may be useful for the annot
82 algorithms use a haplotype reference panel, sequencing reads, and/or parental genotypes to phase an
83 the same regions with low numbers of aligned sequencing reads are also highly variable by genomic mic
84 ling, where the k-mer frequencies within raw sequencing reads are analyzed to estimate major genome c
88 equencing (snATAC-seq) feature matrices from sequencing reads are inconsistent, affecting downstream
97 f 100 kb, the scanning of 192 subclones with sequencing reads as short as 350 bp results in an approx
98 latform and obtained errors in our processed sequencing reads at a rate as low as 7.6 x 10(-6) per ba
99 signed to select and store only high-quality sequencing reads at extremely high compression rates.
100 nd random sampling of nucleotide types among sequencing reads at heterozygous sites present challenge
103 rror correction Solution for high-throughput Sequencing reads (BLESS), uses a single minimum-sized Bl
104 ics by providing a scaffold for alignment of sequencing reads, but currently only reflects a single c
106 anopore Technologies in 2014, producing long sequencing reads by measuring changes in ionic flow when
107 tation is complicated by the fact that short sequencing reads can match multiple organisms and by the
112 Moreover, specific implementations for DNA sequencing read count data (based on a Negative Binomial
115 , resulting in a non-uniform distribution of sequencing read counts for each base position in a gene.
120 These labels allow one to combine multiple sequencing reads covering the same RNA molecule to reduc
122 emerged as a common file format for sharing sequencing read data combining both the sequence and an
123 erformance of HapTree on simulated polyploid sequencing read data modeled after Illumina sequencing t
124 in-species DNA sample contamination based on sequencing read data, showed that our methods can reliab
125 method (STITCH) for imputation based only on sequencing read data, without requiring additional refer
127 software tool that utilizes next-generation sequencing read depth information and variant allele fre
128 hmarked against copy numbers determined from sequencing read depth to successfully obtain CNP genotyp
129 copy number variants (CNVs) from human exome sequencing read depth, but previous tools have not been
130 in most of the extraneous variability in the sequencing read depth: GC content, target footprint size
131 1218 1000 Genomes Project phase 3 males from sequencing read-depth, then chose 14 for valid ation by
133 cally, we analyzed over 500 million Illumina sequencing reads derived from the hippocampi of 10 colon
135 e quantification relies entirely on counting sequencing reads, detailed studies about the method's ac
136 molecular evolutionary (PhaME) analysis from sequencing reads, draft assemblies or completed genomes
137 tional modules directly from high-throughput sequencing reads, enabling the determination of communit
138 cluding genome assembly, error correction of sequencing reads, fast multiple sequence alignment and r
139 nchmarking workflow, using synthetic shotgun sequencing reads for which we know the true CDS content
143 apping should facilitate de novo assembly of sequencing reads from complex regions in diploid organis
144 stical tests to evaluate the distribution of sequencing reads from different plates into contigs, and
148 Methyl-Analyzer processes and integrates sequencing reads from methylated and unmethylated compar
150 ant Assembly (HySA) approach that integrates sequencing reads from next-generation sequencing and sin
151 nd applied this model to 325 920 unique deep sequencing reads from plasma virus samples from 45 drug
154 omposition at the beginning of transcriptome sequencing reads from the Illumina Genome Analyzer.
155 We therefore generated 130x coverage by long sequencing reads from the Pacific Biosciences platform t
157 to annotate the function and taxonomy of the sequencing reads generated from a microbiome sample.
158 assessed the performance of the method using sequencing reads generated from reference DNA with known
162 resource of 563 million full-length isoform sequencing reads identifies 201 novel, potentially prote
163 whole-genome alignments and read depths from sequencing reads identify approximately 1.1 Gb of synten
164 matics pipeline was developed to process raw sequencing reads, identify antibiotic resistance genetic
166 SOLiD technology generates millions of short sequencing reads in color-space; that is, the raw data i
167 encing (HTS) data are commonly stored as raw sequencing reads in FASTQ format or as reads mapped to a
168 , we estimated GSTM1 copy number using exome sequencing reads in the Atherosclerosis Risk in Communit
170 for phasing variants that are overlapped by sequencing reads, including those from RNA sequencing (R
171 141K mutant allele in 25% of next-generation sequencing reads indicating somatic mosaicism, whereas C
173 convenient, flexible workflow to process raw sequencing reads into a high-quality expression dataset
175 puting the two haplotypes that partition the sequencing reads into two disjoint sub-sets, with the le
177 , machine failure, and so on, the quality of sequencing reads is never perfect, and often declines as
178 microbial community from unannotated shotgun sequencing reads is one of the important goals in metage
182 bacteria, these advances come at the cost of sequencing read length, limiting the phylogenetic resolu
187 veloped a toolkit, 'MetaSIPSim,' to simulate sequencing read libraries for metagenomic-SIP experiment
189 Conventional strategies either sum up all sequencing reads mapped to a parental RNA, which sacrifi
190 with and without enrichment, the percent of sequencing reads mapping to the Mtb increased to 90.95%
191 et enrichment panel increased the percent of sequencing reads mapping to the Mtb target for all three
192 in technical details of library preparation, sequencing, read mapping, normalization, gene sets, and
194 ce genome of a female AKV was assembled from sequencing reads obtained from both PacBio long-read and
196 lation BWT and use it to store and index the sequencing reads of 2705 samples from the 1000 Genomes P
197 es the physical distances between paired-end sequencing reads of a library of a wild-type reference F
198 abase system that links aligned DNA- and RNA-sequencing reads of clinical Pseudomonas aeruginosa isol
199 d Salmonella serotype determination from raw sequencing reads of fecal metagenomes from mice orally i
203 17,676 viral contigs assembled from shotgun sequencing reads of VLP DNAs, we identified viruses that
205 e MinION nanopore sequencer can produce long sequencing reads on a device similar in size to a USB me
207 icient solution for mapping third generation sequencing reads onto assembly graphs of various complex
209 arising as a result of identifying genes on sequencing reads or on assembled nucleotide contigs, whi
211 provides a flexible framework for extracting sequencing reads or read-pairs that satisfy combinations
212 ted shotgun data set consisted of 27 million sequencing reads organized in pairs by virtue of end-seq
213 ncertainty as to which epiallele an observed sequencing read originated from is explicitly incorporat
214 rocessed to sequencing libraries wherein all sequencing reads originating from each long DNA molecule
215 ncluding de novo assembly of high throughput sequencing reads, ortholog identification, multiple sequ
218 8,993 raw sequencing reads-about one million sequencing reads per library-and the pooled sequences we
220 lished from an embryo where 92.1% of the PGT sequencing reads possessed a single G insertion that lea
221 tively examine the statistical properties of sequencing reads produced by Illumina Genome Analyzer an
222 transcript assembly problem) from the short sequencing reads produced by RNA-seq protocol plays a ce
227 data sets of varying complexity by combining sequencing reads randomly selected from 113 isolate geno
228 At each splice junction suggested by split sequencing reads, read depths of test and control sample
231 embling a large genome using next generation sequencing reads requires large computer memory and a lo
232 s show differing amounts of FFPE damaged DNA sequencing reads revealed as relatively high alignment m
235 We present G-SQZ, a Huffman coding-based sequencing-reads-specific representation scheme that com
236 stics to identify peak-like distributions of sequencing reads, taking advantage of improved peak defi
237 psy specimens revealed more than 2.5 million sequencing reads that did not match known organisms.
239 circular RNAs (circRNAs) using the number of sequencing reads that support back-splicing junctions (B
240 of their results due to the small number of sequencing reads that were confidently assigned to wheat
241 Furthermore, the genomic distribution of sequencing reads, their enrichment at transcription star
242 nized across pipelines to call variants from sequencing reads, there currently exists no standardized
243 imited in their sensitivity and require long sequencing reads, thus increasing the cost and decreasin
245 sequencing (mWGS) usually starts by aligning sequencing reads to a collection of reference genomes.
246 package facilitates a rapid transition from sequencing reads to a fully annotated CpG methylation re
247 al RNA-seq data analysis, including aligning sequencing reads to a genome, constructing transcriptome
249 Methods that utilize these technologies map sequencing reads to a reference genome and look for sign
251 Seq requires the mapping of relatively short sequencing reads to a reference genome or transcript set
252 need much faster software to map these long sequencing reads to a reference genome to identify SNPs
253 echnical artifacts such as errors in mapping sequencing reads to a reference genome, sequencing error
256 ementing quasi-mapping-is capable of mapping sequencing reads to a target transcriptome substantially
261 at iteratively aligns deep coverage of short sequencing reads to correct errors in reference genome s
262 ties involved in properly apportioning short sequencing reads to highly repetitive regions of the gen
264 hemical probing methods generate millions of sequencing reads to provide structural constraints for R
265 hich uses the fluctuation spectrum of mapped sequencing reads to quantify and compare chromatin patte
266 Fragment recruitment, a process of aligning sequencing reads to reference genomes, is a crucial step
267 ed a bioinformatics pipeline that attributes sequencing reads to specific KIR genes, determines copy
268 g, an NGS workflow involves alignment of the sequencing reads to the genome of study, after which the
270 indicate that NBC can assign next-generation sequencing reads to their taxonomic classification and c
271 g from 44.8-96.5%, and representation of CPV sequencing reads to those of the metagenome background r
273 n tools are employed to reduce primary data (sequencing reads) to a form suitable for further analyse
288 cut site-adjacent sequence fragments had no sequencing reads whereas a portion had substantially gre
289 ord Nanopore, can generate long, error-prone sequencing reads which pose new challenges for fragment
291 pping algorithm designed to analyse nanopore sequencing reads, which progressively refines candidate
293 l pipeline that integrates a strategy to map sequencing reads with a data-driven method for iterative
294 anopore MinION are capable of producing long sequencing reads with average fragment lengths of over 1
296 EST), an algorithm that uses next-generation sequencing reads with partial alignments to a reference
297 plotypes from the 1000GP samples to simulate sequencing reads with varying insert size, read length,
299 phylogenetics directly from next-generation sequencing reads without the use of a reference genome.
300 rom de novo assembled contigs and individual sequencing reads yielded a map of the viruses detected.