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1 Genome-Wide Association Studies (NHGRI GWAS Catalog).
2 sources in indexed JSON-encoded flat files (catalogs).
3 tens of thousands of functions in the human catalog.
4 criptional alterations are more difficult to catalog.
5 n the genome-wide association studies (GWAS) catalog.
6 the application of INRICH on the NHGRI GWAS catalog.
7 entally obtained, single-base resolution CGI catalog.
8 ized as sunscreens in the Amazon.com, online catalog.
9 d larger than cohorts used for previous gene catalogs.
10 of studies and results than comparable GWAS catalogs.
11 considerably higher quality than in previous catalogs.
12 A that only recently has been identified and cataloged.
13 ts substrate, Gag, have not been extensively cataloged.
14 and doubled the total number of transcripts cataloged.
15 es in which PS ASOs are active, or inactive, cataloged.
17 g 2 (Msh2) by mutagenizing, identifying, and cataloging 26 deleterious mutations in 23 amino acids.
20 a cell lines and two non-myeloma cell lines, cataloging a total of 57 potent multiple myeloma surviva
22 mutant primary macrophages to systematically catalog all of the genes bound by (cistromes) and transc
23 p://www.ncbi.nlm.nih.gov/genome/viruses/ and catalogs all publicly available virus genome sequences a
24 ition to the SNP-trait association data, the Catalog also publishes a quarterly diagram of all SNP-tr
26 formation Center for Protein Sequence (MIPS) catalog and complexes derived from the Saccharomyces Gen
30 tablish a comprehensive antibiotic resistome catalog and to obtain co-occurrence patterns between ARG
31 t the computational level by comprehensively cataloging and characterizing its cellular building bloc
32 e samples reduces the material available for cataloging and introduces a bias toward the earlier stag
34 n genome-wide significant SNPs from the GWAS catalog, and are also more likely to be tissue specific
35 ession data, Genome-Wide Association Studies catalog, and text-mined knowledge, to discover disease-d
36 cribes how to use the viral protein families catalog ( approximately 7 h) and recommended filters for
40 4), and reclassified 69% of genetic variants cataloged as disease causing in mutation databases to va
43 of 3D structures translated into 3D graphs, cataloged based on the connectivity between their second
44 offers several new functions including read cataloging based on genome annotation, optional seed reg
46 c information on tumors from 50 cancer types cataloged by the International Cancer Genome Consortium
51 ls have provided the tantalizing prospect of cataloging cell type diversity and developmental dynamic
52 ents, making it suitable for discovering and cataloging chromosomal translocations associated with sp
53 Med, Web of Science, Embase and the NIH GWAS catalog complemented by data extraction from pre-existin
56 ng PennCNV, an algorithm for identifying and cataloging copy numbers for individuals based on a hidde
62 tablished transcriptomes provide a reference catalog for further detailed studies on human spermatoge
64 and validated a prototypic reverse diagnosis catalog for the MMR gene MutS Homolog 2 (Msh2) by mutage
65 ovide an online conditional cis eQTL mapping catalog for whole blood, which can be used to lookup eQT
67 ta Release 24 (Q1-Q17 DR24) planet candidate catalog from NASA's Kepler mission, specifically compari
69 the number of genome-wide significant loci, catalog functional insights, and enhance our understandi
73 collaborative studies around the globe have cataloged genomic and epigenomic alterations in gliomas
74 ntrast, whole-genome sequencing reproducibly cataloged genomic variants (131,424 different single nuc
77 le eQTL (expression quantitative trait loci) catalogs have become available that can help understand
78 3 probands (69.6%) presented with previously cataloged human genetic disorders and/or defined CNV hot
82 Much work remains to complete the mutational catalog in primary tumors and across the natural history
83 s and term relations that were initially not cataloged in GO, a number of which have now been added b
84 Expression of an oncogenic mutant of GIV (cataloged in TCGA) that cannot be phosphorylated by AMPK
86 lysis, and the final autopsy report were all cataloged in the Johns Hopkins Post-mortem CIED Registry
91 data from the literature and our joint study catalog includes data from over 100 studies in 11 organi
92 sents a number of recent improvements to the Catalog, including novel ways for users to interact with
93 ntestinal microbiota has begun to shift from cataloging individual members of the commensal community
94 decomposition of a cancer genome's mutation catalog into mutations consistent with such signatures c
96 quently, the completeness of a species' gene catalog is measured using a set of marker genes that are
98 STITCH and STRING are sister databases that catalog known and predicted drug-protein interactions an
99 nted by functional information from the GWAS Catalog, libraries of transcription factor binding sites
100 The results provide the first genome-wide catalog linking gene promoters to their long-range inter
101 Distinct differences in the cellular protein catalog may reflect the dynamic role and high energy req
103 Transcriptomic analysis of these neurons now catalogs molecules involved in signaling and ectosome bi
104 e we exploited this property to sequence and catalog more than 10 million mutations in the protein-co
105 p to 13 vertices (~260 nucleotides), thereby cataloging more than 10 times as many secondary structur
106 oth within the groups comprising the ~11,200 cataloged morphospecies of eukaryotic plankton and among
108 diction supported by RNA-seq data produced a catalog of 1703 predicted microRNAs, 18,882 long noncodi
109 ng Project and compared this data set with a catalog of 197 previously published rare variants report
111 mation to create a phased "Platinum" variant catalog of 4.7 million single-nucleotide variants (SNVs)
112 n this study, we present the first reference catalog of 682 high-confidence lncRNAs based on analysis
113 ic effort to produce a comprehensive genomic catalog of all cultured Bacteria and Archaea by sequenci
114 ads to both the human reference genome and a catalog of all possible splicing events developed from t
115 the inclusion of microRNA knockouts to MGD's catalog of alleles and phenotypes, the addition of video
118 the National Human Genome Research Institute catalog of associations to generate instrumental variabl
119 vides links to pathway information, the ZINC catalog of available compounds, and other resources.
120 oupled to the virtually unlimited commercial catalog of available starting materials bodes well for i
122 between protein domains, presents a complete catalog of both structurally resolved and predicted inte
126 It not only extends the most up to date catalog of circRNAs but also provides a thorough express
133 l hydrolase, expanding an already impressive catalog of enzymes involved in polysaccharide metabolism
135 ranscriptome resource and produced the first catalog of expression quantitative trait loci (eQTLs) in
136 ific collaboration to create a comprehensive catalog of functional elements in the human genome, and
140 rtium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-
144 es of initiation and provide a comprehensive catalog of genes targeted for silencing by this methyltr
145 (+) cells and true beta cells and provides a catalog of genes whose manipulation may convert hPSC-INS
146 for genes from PHI-base, an expertly curated catalog of genes with experimentally verified pathogenic
152 e data requires a comprehensive, genome-wide catalog of high-confidence variants called in a set of g
154 ociation Predictions) database, an extensive catalog of human genetic associations mapped to effector
158 sequencing efforts have vastly expanded the catalog of long non-coding RNAs (lncRNAs) with varying e
163 oject and 1000 Genomes Project resulted in a catalog of millions of single nucleotides and insertion/
164 In conclusion, this work provides a novel catalog of mouse ESCs-expressed lincRNAs with the relati
170 ined with in situ hybridization to develop a catalog of nox1, nox2/cybb, nox5, and duox expression in
171 des, collective studies have unveiled a full catalog of nucleoporins (Nups) that comprise the NPC, st
172 a range of different organisms, to provide a catalog of nucleosome positioning signals in promoters a
173 Our study provides the first comprehensive catalog of parent-of-origin expression status for X-link
175 Chip and qPCR, this workflow offers a robust catalog of protein-DNA binding events with improved spat
176 The database of 3D interacting domains is a catalog of protein-protein interactions for which a high
177 tabase of 3D interacting domains (3did) is a catalog of protein-protein interactions for which a high
178 onal Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies (GW
179 the National Human Genome Research Institute Catalog of Published Genome-Wide Association Studies (NH
180 e National Human Genome Research Institute's Catalog of Published Genome-Wide Association Studies ide
185 controlled by an expanding, yet incomplete, catalog of RNA-binding proteins (RBPs), many of which la
186 aft sequence makes available a comprehensive catalog of sequence differences between the CB4856 and N
188 ural network analyses approach to identify a catalog of small molecules dependent on the colibactin p
190 from short reads, we report a comprehensive catalog of somatic structural variations and the mechani
192 sing new genomic technologies, has started a catalog of specific microbiome composition and its corre
193 discovery of a large but previously unknown catalog of splicing variations in human populations.
197 could diagnose CMV status from the resulting catalog of TCRbeta sequences with high specificity and s
199 ovo database, which provides a comprehensive catalog of the DNMs identified in neuropsychiatric disor
202 is custom chip provides a more comprehensive catalog of the most promising candidate variants by pick
204 types are highly concordant with the current catalog of the National Institute of Standards and Techn
205 cant gains rely on obtaining a comprehensive catalog of the neurons and associated GAL4 lines that ar
208 mbl gene annotation provides a comprehensive catalog of transcripts aligned to the reference sequence
215 ll types and organisms should accelerate the cataloging of enhancers and understanding how transcript
216 cing of the human genome, and its associated cataloging of human genetic variation and technological
217 ulture in the laboratory, which can confound cataloging of members and understanding of how communiti
218 ng these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary
220 iations with variation in the connectome and cataloging of neurophenotypes promise to transform our u
221 ge-scale mutagenization, identification, and cataloging of residues of MMR genes critical for MMR gen
224 racterization of copepod transcripts and the cataloging of the complete set of 79 eukaryotic cytoplas
226 onucleotide microsatellites, allowing a full cataloging of the true targets of MSI in colorectal canc
228 applications, not the least of which is the cataloging of variant splice isoforms of protein-coding
230 arge-scale studies have created genome-scale catalogs of DNase I hypersensitive sites (DHSs), which d
231 Our results demonstrate that comprehensive catalogs of GxE interactions are indispensable to thorou
236 las (TCGA), which is now routinely compiling catalogs of somatic mutations from hundreds of paired tu
240 , available at http://nonb.abcc.ncifcrf.gov, catalogs predicted non-B DNA-forming sequence motifs, in
241 acids can be removed from either end of the cataloged protein structure before converting it from a
244 ished Genome-Wide Association Studies (GWAS) Catalog provides a publicly available manually curated c
248 ry properties for pre-B cells, and provide a catalog reference for the epigenetic changes that occur
250 d in vitro analysis of mutants listed in the catalog revealed both recessive and dominant-negative ph
251 rom Chinese and Danish individuals using the catalog revealed country-specific gut microbial signatur
252 matter." Here, we introduce an algorithm to catalog RiPP biosynthetic gene clusters and chart geneti
254 optimized these ligands through an analog-by-catalog search that yielded compound 4, which binds to P
255 manually curated data management system that catalogs sequencing projects with associated metadata fr
258 scale genomic analyses of human cancers have cataloged somatic point mutations thought to initiate tu
259 mputational discovery and classification, we catalog SR proteins in 20 model organisms, with a focus
262 nd indels (99.92%) and add a validated truth catalog that has 26% more SNVs and 45% more indels.
263 ctices from metagenomics research to rapidly catalog the bacterial composition of clinical specimens
270 trometry (MS) or RNA-sequencing (RNA-seq) to catalog the proteins and RNA associated with sites of ac
271 The creation of structured resources that catalog the relationships between drugs and genes would
276 development and provide a community resource cataloging the abundance and phosphorylation status of t
277 focus on emerging themes from recent studies cataloging the diversity of ERV LTRs acting as important
278 ODE Project have made tremendous progress in cataloging the genomic binding patterns of DNA-associate
280 ologs that are difficult to detect, and thus catalogs the largest number of evolutionary links among
281 In summary, this high-throughput technique catalogs the potential phosphorylation substrates of mul
282 ic Site Atlas (CSA) published in 2004, which catalogs the residues involved in enzyme catalysis in ex
284 sted as critical in such a reverse diagnosis catalog, there is a high probability that the correspond
287 , exome and sequencing studies, allowing the Catalog to adapt to the needs of evolving study design,
288 ng and de novo assembly of an expressed gene catalog (transcriptome) from the giant horsetail (Equise
291 sing the multicolor flip-out technique and a catalog was created of the neurons, their morphologies,
292 te the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney fun
293 (NHGRI) genome-wide association study (GWAS) catalog, we determined that 528 unique sQTLs were signif
295 eported in the Genome-Wide Association Study Catalog were annotated, 78% as mQTL and 31% as eQTL in L
296 such trait-associated SNPs have already been cataloged, which we believe form a great resource for ge
299 o generate an ocean microbial reference gene catalog with >40 million nonredundant, mostly novel sequ
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