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8 results for “NA12878”

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zenodo36/100

NA12878 WES Benchmark dataset

<p>This dataset makes available the UCSC Genome Browser (genome.ucsc.edu) GRCh37 genome build public session <strong>NA12878 WES Benchmark </strong>files in a single dataset so that these files can be used in other applications or genome browsers such as IGV.&nbsp;</p> <p>The <a href="https://usegalaxy.org/u/erinija/p/omim-genes-in-na12878-wes-benchmark">&quot;Procedure and datasets to cross-reference OMIM genes with the genomic regions of interest&quot;</a>&nbsp; Galaxy page&nbsp; on&nbsp; <strong>usegalaxy.org</strong> server&#39;s&nbsp;<em><strong>Shared Data Pages</strong></em> describes&nbsp;practical procedure and several possible use cases for this data set. This page can be accessed freely by users logged into their accounts on usegalaxy.org.&nbsp; Please register if you don&#39;t have an account on usegalaxy.org Galaxy server. &nbsp;</p> <p>All&nbsp; genomic variant calls in&nbsp; all VCF files of this data set were decomposed and normalized with vt. This dataset contains:&nbsp;</p> <ol> <li>Genome in a bottle (GIAB)&nbsp;version 3.3.2 high confidence (HC)&nbsp; variant calls and genomic regions for HapMap individual NA12878 : <ol> <li>GIAB_v3.3.2_NA12878-decomposed-normalized.vcf.gz</li> <li>GIAB_v3.3.2_NA12878-decomposed-normalized.vcf.gz.tbi</li> <li>GIAB_v3.3.2_NA12878_HC_regions.bed</li> </ol> </li> <li>HapMap individual NA12878 WES variant calls (VCF) and capture regions (BED) from diagnostic laboratories : <ul> <li>ARUP whole exome sequencing data (HiSeq 2000) publically available from NCBI GeT-RM Browser <ol> <li>converted_ARUP_NA12878_Exome-decomposed-normalized.vcf.gz</li> <li>converted_ARUP_NA12878_Exome-decomposed-normalized.vcf.gz.tbi</li> <li>&nbsp;ARUP_SeqCap_EZ_Exome.bed</li> </ol> </li> <li>UCSF whole exome sequencing data (HiSeq 2500) publically available from NCBI GeT-RM Browser <ol> <li>converted_UCSF_NA12878_WES_Agilent_V4_Custom-decomposed-normalized.vcf.gz</li> <li>converted_UCSF_NA12878_WES_Agilent_V4_Custom-decomposed-normalized.vcf.gz.tbi</li> <li>UCSF_WES_Agilent_V4_Custom.bed</li> </ol> </li> <li>Whole exome data (NextSeq 500) sequenced in CHEO diagnostic laboratory <ol> <li>CHEO_NA12878_WES_S1dataset.vcf.gz</li> <li>CHEO_NA12878_WES_S1dataset.vcf.gz.tbi</li> <li>Agilent_CRE_v2.bed</li> </ol> </li> </ul> </li> <li>Genomic coordinates (BED) of OMIM genes for which a molecular basis of the associated disease is known (as of September 2019) : <ul> <li>Omim_Genes.bed&nbsp;</li> </ul> </li> </ol>

opencc-by-4.0Jan 2020View details →
zenodo36/100

Coriell Index NA12878

<p>Variant calls from the first human genome analysed at University Clinical Center in Gdansk. The sample was sequenced at Genomics Core Facility in Bergen, Norway.</p> <p>Technology: Illumina HiSeq 4000</p> <p>Reference: GRCh38</p> <p>Alignment: cgpwgs - cgpmap 2.1.1</p> <p>Variant Calling: DeepVariant 1.6.1</p> <p>&nbsp;</p>

opencc-by-4.0Aug 2024View details →
zenodo36/100

NA12878, 22RV1 and NB4 sequence dataset

<p>Adaptive Nanopore PromethION multiplexed sample.&nbsp;</p> <p>NA12878 is Barcode 05.</p> <p>NB4 is Barcode 06.</p> <p>22Rv1&nbsp;is Barcode 07.</p> <p>The FASTQ is split by whether the read was sequenced or actively rejected by readfish.</p> <p>Corresponds to the dataset used in the readfish dataset.</p>

opencc-by-4.0Oct 2024View details →
zenodo36/100

NA12878 and MCF7 data for Profiling Chromatin Accessibility in Humans Using Adenine Methylation and Long-Read Sequencing

<p>This dataset includes 5mC and 6mA frequency data for NA12878 and MCF7 EcoGII-treated chromatin samples sequenced on nanopore r9.4.1.</p>

opencc-by-4.0Oct 2023View details →
zenodo28/100

Genotypes, variants and pedigree from a human parent-offspring trio (NA12878)

<p>This dataset includes whole genome sequencing data, produced at the French National Research Center for Human Genomics (CNRGH), with known pedigree information:<br> - The VCF file contains genotypes and variants from a CEU parent-offspring trio comprising NA12878 (child), NA12891 (father) and NA12892 (mother).<br> For each member, 150-bp paired-end whole genome sequencing data were generated on the Illumina HiSeq X system, from a PCR-free library (40x).<br> - The TFAM file contains pedigree information of this CEU parent-offspring trio.</p>

opencc-by-nc-sa-4.0Mar 2019View details →
zenodo28/100

Agilent v7 NA12878 VCF files

<p>Agilent v7 VCF files generated for the NGS-CN benchmarking with the development nextflow exomme pipeline version of the CCG.</p>

opencc-by-4.0May 2022View details →
zenodo20/100

Agilent v7 exomes of NA12878

<p>FastQ files used in the NGS-CN benchmarking initiative</p>

opencc-by-4.0May 2022View details →
zenodo8/100

NA12878 WGS 30x

<p>Normal sample used in combination with simulated tumor for benchmarking purposes.</p> <p>10.5281/zenodo.11203957</p> <p>Created for 1+MG WG9.</p>

restrictedMay 2024View details →

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