Search Results for: chromosome rearrangement

11/04/2021 - Meeting Link: https://cbiit.webex.com/cbiit/j.php?MTID=mf0f44a00dfd24b954e3b3574894b21c4 Abstract:  Existing human genome assemblies have almost entirely excluded highly repetitive sequences within and near Read More...

06/01/2020 - After nearly two decades of improvements, the current human reference genome is the most accurate and complete vertebrate genome ever produced. However, no one chromosome has been finished end to end, and hundreds of Read More...

To load genomic data tracks, select "File" in the IGV menu bar. User can load from file, URL, or server. In this case, "Load from File" will be used to select Read More...

For RNA sequencing studies, we need to use a splice aware aligner to account for reads that map across exons. Bowtie2 is a commonly used aligner for DNA sequencing and is not splice aware. Let' Read More...

Work on this if you choose to, at your own leisure, or if time permits. How would you confirm that there is a potential single nucleotide variant at position 50,768,105 on chromosome 22 for the hcc1395_normal_ Read More...

Lesson 14 Practice Objectives Here, we will practice using the Integrative Genome Viewer (IGV) to visualize the hcc1395 RNA sequencing alignment results. About the data and launching IGV We were introduced to the hcc1395 RNA sequencing Read More...

We are using the datasets below in the Qiagen IPA course. Human Brain Reference (HBR) and Univeral Human Reference (UHR) dataset Using this for the one hour lecture (from 1 - 2 pm) Find more information about Read More...

To proceed with converting the bedGraph files to bigWig, we need to first create an index of our genome using SAMTOOLS and it's faidx feature. Where faidx will index/extract FASTA. samtools faidx refs/22. Read More...

Previously, we used the application HISAT2 to align the raw sequencing data from the Human Brain Reference (HBR) and Universal Human Reference (UHR) dataset. We created sorted and indexed alignment output in the form of Read More...

Previously, we used the application HISAT2 to align the raw sequencing data from the Human Brain Reference (HBR) and Universal Human Reference (UHR) dataset. We created sorted and indexed alignment output in the form of Read More...

For RNA sequencing studies, we need to use a splice aware aligner to account for reads that map across exons. Bowtie2 is a commonly used aligner for DNA sequencing and is not splice aware. Let' Read More...

Thus far we have: Learned how to interact with our computer via command line. Downloaded raw RNA-Seq data (.fastq files). Examined raw data quality using fastqc and multiqc . Performed adapter and quality trimming using Trimmomatic . Read More...

STAR 2-pass mode --sjdbGTFfile is the path to the file with annotated transcripts in standard GTF format, STAR extracts splice junctions from this file, improves accuracy of mapping. Using annotations is highly recommended whenever they Read More...

Now that we have downloaded the HBR and UHR dataset and know where analysis tools are, let's start learning about RNA sequencing, by first learning about our reference genome and annotation files. Let's Read More...

Now that we have downloaded the HBR and UHR dataset and know where analysis tools are, let's start learning about RNA sequencing, by first learning about our reference genome and annotation files. Let's Read More...

One of the things we will be doing quite often is to visualize genomics data using some sort of genome browser. In this course series, we will use a popular one called Integrative Genome Viewer( Read More...

One of the things we will be doing quite often is to visualize genomics data using some sort of genome browser. In this course series, we will use a popular one called Integrative Genome Viewer( Read More...

05/21/2020 - Students will learn how to use the point-and-click interface in Partek Flow to go from raw data to experimental results for RNA-Seq analysis. For example: import data from .fastq files; perform QA/QC (Pre-alignment Read More...

05/19/2020 - Students will learn how to use the point-and-click interface in Partek Flow to go from raw data to experimental results for DNA-Seq and ATAC/ ChIP-Seq data analysis.The class will start with NGS data Read More...

02/05/2013 - This training session will focus on Gene Expression analysis and the rich set of results possible from RNA-Seq based studies. In addition to differential gene expression, researchers also have the opportunity to discover SNPs, Read More...

10/30/2012 - Due to the weather related shutdown of the FEDERAL GOVERNMENT (NIH) this seminar has been POSTPONED ... we will attempt to reschedule at a later date. (10-30-2012)   Topics to be covered   I. Genomic and Read More...

To load genomic data tracks, select "File" in the IGV menu bar. User can load from file, URL, or server. In this case, "Load from File" will be used to select Read More...

Participants can work on these practice questions on their own time as a Biowulf account or local installation of IGV is needed. Open the bigWig files for HBR_Rep1 (HBR_Rep1_hisat2.bw) and UHR_ Read More...

After QC as well as quality and/or adapter trimming, it is time to map the sequences in the FASTQ files to the reference genome. RNA sequencing analysis requires the use of a splice aware Read More...

Since the HBR-UHR data did not need trimming, this practice session will have participants align this data to the chromosome 22 human reference. Sign onto Biowulf and change into the /data/user/hbr_uhr_b4b Read More...

The tool HISAT2 will be used to align the trimmed hcc1395 FASTQ files to the human chromosome 22 reference. RNA sequencing analyses require the use of splice aware aligners in order to map sequences that span Read More...

The tool HISAT2 will be used to align the trimmed hcc1395 FASTQ files to the human chromosome 22 reference. RNA sequencing analyses require the use of splice aware aligners in order to map sequences that span Read More...

BOWTIE2 is a non-splice aware aligner that is used for analyzing DNA sequences. The hcc1395 FASTQ files will be aligned to the human chromosome 22 reference genome to compare the differences between the alignment outcome obtained Read More...

Next, goto the course data section of the class documentation. Download 22_transcriptome.fa into the lesson7_practice folder using wget. This file contains sequences corresponding to the transcripts found in human chromosome 22. {{Sdet}}{{Ssum}}Solution{{ Read More...

Click here to download the class data as a zip files to local computer. Macs should automatically unzip upon download but Windows users will have to unzip after download. Follow the instructions at https://bioinformatics. Read More...

The reference genome is a completely assembled sequence that we can compare other sequences to. For high throughput sequencing, we need the known sequences so that we can find out where in the genome each Read More...

Next, goto the course data section of the class documentation. Download 22.gtf into the lesson7_practice folder using curl. This is the genomic annotation file for human chromosome 22, which tells us where features such as Read More...

One of the things we will be doing quite often is to visualize genomics data using some sort of genome browser. In this course series, we will use a popular one called Integrative Genome Viewer( Read More...

For visualizing the HBR and UHR alignment results, we will use the built in Human hg38 genome. To do this, we will just goto the genome selection box and select hg38 (Figure 2). In Figure 3, we Read More...

Here, let's download the HBR and UHR dataset to get acquainted with it. First, we will use pwd to make sure we are in the home directory. pwd If we are in the home Read More...

Here, let's download the HBR and UHR dataset to get acquainted with it. First, we will use pwd to make sure we are in the home directory. pwd If we are in the home Read More...

Filtering is done to keep or remove variants to satisfy certain constraints. Make a new directory and download the example data (VCF file and index). This file contains variants in chromosome 19:400kb-500kb mkdir hg19 Read More...

Thus far we have: Downloaded raw RNA-Seq data (.fastq files). Examined raw data quality using fastqc and multiqc . Performed adapter and quality trimming using Trimmomatic . Aligned the raw sequences to a reference genome (human chromosome 22 Read More...

Step 1 for generating bigWig files is to convert the BAM alignment results to a bedGraph file that contains coverage along genomic regions. Enchancing your vocabulary: BED file - this is also known as Browser Extensible Read More...

In this portion of the class, it is very important that you have IGV already opened on your computer. See Figure 1 and Figure 2 on how to load the relevant alignment outputs for HBR_1 and UHR_1 Read More...

Step 1 for generating bigWig files is to convert the BAM alignment results to a bedGraph (with extension bg) file that contains coverage along genomic regions. Enhancing your vocabulary: BED file - this is also known Read More...

Lesson 14: Visualizing alignment results Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 13 Review Previously, we used the application HISAT2 to align the raw sequencing data from the Human Brain Read More...

After the index file for the genome has been created, we will use a tool called bedGraphToBigWig to generate bigWig (bw) files from bedGraph (bg). Again, we use cat and parallel where cat reads/ids. Read More...

Lesson 14: Visualizing alignment results Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 13 Review Previously, we used the application HISAT2 to align the raw sequencing data from the Human Brain Read More...

Lesson 9: Reference genomes and genome annotations used in RNA sequencing Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 8 Review In Lesson 8, we learned about the basics of RNA sequencing, Read More...

Lesson 9: Reference genomes and genome annotations used in RNA sequencing Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 8 Review In Lesson 8, we learned about the basics of RNA sequencing, Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Remember to activate the bioinfo environment. conda activate bioinfo Then create a new directory for files we will be working with today in Read More...

We will build a database out of all features of the 2014 Ebola genome under accession number KM233118. This data will go into a new directory named "db_2014". mkdir -p db_2014 # Get the 2014 Ebola Read More...

The test data consists of two commercially available RNA samples: Universal Human Reference (UHR) and Human Brain Reference (HBR) . The UHR is total RNA isolated from a diverse set of 10 cancer cell lines. The HBR Read More...

The test data consists of two commercially available RNA samples: Universal Human Reference (UHR) and Human Brain Reference (HBR) . The UHR is total RNA isolated from a diverse set of 10 cancer cell lines. The HBR Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Obtain RNA-seq test data. The test data consists of two commercially available RNA samples: Universal Human Reference (UHR) and Human Brain Reference (HBR) . Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Obtain RNA-seq test data. The test data consists of two commercially available RNA samples: Universal Human Reference (UHR) and Human Brain Reference (HBR) . Read More...

The test data consists of two commercially available RNA samples: Universal Human Reference (UHR) and Human Brain Reference (HBR) . The UHR is total RNA isolated from a diverse set of 10 cancer cell lines. The HBR Read More...

Lesson 13: Aligning raw sequences to reference genome Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 11 Review In Lesson 11 we learned to aggregate multiple FASTQC reports into one using MultiQC, Read More...

Lesson 13: Aligning raw sequences to reference genome Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 11 Review In Lesson 11 we learned to aggregate multiple FASTQC reports into one using MultiQC, Read More...

Plots condense complex and busy tabular data into a form that is easier to interpret. An expression heatmap is a common visualization used in RNA sequencing analysis. A heatmap shows numerical data on a color Read More...

Note that we now have differential expression by transcripts and our first column contains the transcript IDs. But what genes do these transcripts map to? We will need to do some data wrangling to find Read More...

This page contains content taken directly from the Biostar Handbook by Istvan Albert. Activate the bioinformatics environment. conda activate bioinfo First let's make a place to store today's work. In your biostar_class Read More...

07/13/2023 - The Comparative Genome Viewer (CGV) is a visualization tool that helps you quickly compare two genomes based on assembly-assembly alignments provided by NCBI. CGV includes eukaryotic (animal, plant and fungal) assemblies, and many cross-species Read More...

05/19/2022 - THIS EVENT HAS BEEN CANCELLED Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood and are subdivided into three major histomorphologic subtypes: alveolar (ARMS), embryonal (ERMS), or spindle/sclerosing (SSRMS).  Patients with Read More...

05/18/2022 - Powerful and Intuitive Gene Expression Visualization Tools to Interpret Biological Signals – Bulk and Single Cell Data The increasing use of genomic technologies, such as RNA-Seq and single cell RNA-Seq, to assess gene expression patterns Read More...

05/24/2021 - Dr. Adam Phillippy, a Senior Investigator at NHGRI will give an extremely interesting talk on Monday, 5/24 at 11 am via WebEx at https://nih.webex.com/nih/j.php?MTID=m237a8e77868c23cc4 Read More...

10/23/2019 - Please note class will start at 10 AM and end at 12 noon. Thank you! Attention: This class is limited to 28 people due to the size of the room. Please add your name to the waiting Read More...

08/28/2019 - Please bring your computer with Partek Genomics Suite to this hands-on workshop. You'll need to submit a request through “NCI at Your Service” to obtain the access to this software. Partek will demonstrate Read More...

11/06/2018 - RNA-Seq Data Analysis in Partek Flow Please bring a laptop to this class - or let us know if you need to borrow one. Please printout and bring the handout from the class website. Read More...

03/29/2017 - The CCR Bioinformatics Training and Education Program (BTEP) is pleased to organize a workshop on Partek Flow for scientists at NCI-Frederick . Partek Flow software is designed specifically for the analysis needs of next generation Read More...

12/07/2015 - This 2-day course, which includes both lecture and hands-on components, will teach the basic concepts and practical aspects of RNA-Seq Data Analysis. Learn everything from experimental design to statistical analysis. This workshop will include Read More...

12/01/2015 - REGISTRATION FULL - Please signup for Session 2 December 7/8 This 2-day course, which includes both lecture and hands-on components, will teach the basic concepts and practical aspects of RNA-Seq Data Analysis. Learn everything from experimental Read More...

02/19/2015 - This 2-day course, which includes both lecture and hands-on components, will teach the basic concepts and practical aspects of RNA-Seq Data Analysis. Learn everything from experimental design to statistical analysis. This workshop will include Read More...

For this exercise, click on the chromosome selection drop down and choose "All". Then load normal_rep1.bam and tumor_rep1.bam to the tracks. Unlike the bigWig files, which shows pre-calculated coverage Read More...

For this exercise, click on the chromosome selection drop down and choose "All". Then load normal_rep1.bam and tumor_rep1.bam to the tracks. Unlike the bigWig files, which shows pre-calculated coverage Read More...

The first step for generating bigWig files is to convert the BAM alignment results to bedGraph (with extension bg) files that contains sequencing depth along genomic regions (ie. how many sequences mapped to a genomic Read More...

The reference genome is a completely assembled sequence (ie. the order in which the nucleotides are arranged is known). For high throughput sequencing, the known sequence help scientists find out where in the genome each Read More...

The reference genome is a completely assembled sequence (ie. the order in which the nucleotides are arranged is known). For high throughput sequencing, the known sequence help scientists find out where in the genome each Read More...

Our operational objectives are to provide state-of-the-art OMICS technologies in support of the Genetics Branch (GB) investigators and collaborators. Research Services Wet Lab Single cell isolation from fresh, frozen, and FFPE tissue, DNA/RNA extractions Read More...

Listed below are the video recordings of past BTEP events (classes, seminars, workshops). Videos are hosted on various servers and may play slightly differently. Some videos may be downloaded for local viewing. Recorded Videos of Read More...

How to download data from the Sequence Read Archive (NCBI/SRA) to your account on NIH HPC Biowulf You will need: active, unlocked Biowulf account (hpc.nih.gov) active Globus account for transferring files OR Read More...

Let's download the data and learn how to decompress it. First, we will create a place to store the data. Go to the directory you created for working with class material. If you haven' Read More...

The bowtie2-build indexer builds a Bowtie index from a set of DNA sequences ([ref]. "bowtie2-build" builds a Bowtie index from a set of DNA sequences. "bowtie2-build" outputs a Read More...

Prior to differential expression analysis, we need to generate a design.csv file that contains the samples and their corresponding treatment conditions. Note that csv stands for comma separated value so the columns in these Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Remember to activate the bioinformatics environment and create a directory for today's work. conda activate bioinfo mkdir blast cd blast What is Read More...

Course Wrap-up This lesson concludes the Bioinformatics for Beginners course series. Please email us any time at ncibtep@nih.gov for help with your bioinformatics questions or concerns. Lesson Objectives Short course overview. Review BTEP Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Always remember to activate the bioinfo environment when working on Biostar class material. conda activate bioinfo Retrieving a FASTA genome from NCBI/GenBank Read More...

Lesson 16: RNA sequencing review and classification based analysis Before getting started, remember to be signed on to the DNAnexus GOLD environment. Review In the previous classes, we learned about the steps involved in RNA sequencing Read More...

Lesson 15: Finding differentially expressed genes Before getting started, remember to be signed on to the DNAnexus GOLD environment. Lesson 14 review In the previous lesson, we learned to visualize RNA sequencing alignment results in the Integrative Read More...

This page uses context taken directly from the Biostar Handbook by Istvan Albert. Remember to activate the class bioinformatics environment. conda activate bioinfo Introduction to Genomic Variation Genomic variations are typically categorized into different classes Read More...

Gene ontology and pathway analysis Objectives Determine potential next steps following differential expression analysis. Tour geneontology.org and understand the three main ontologies. Learn about different methods and tools related to functional enrichment and pathway Read More...

Lesson 7: Downloading the RNA-Seq Data and Dataset Overview Lesson Review pwd (print working directory) ls (list) touch (creates an empty file) nano (basic editor for creating small text files) using the rm command to remove Read More...

This page uses content directly from the Biostar Handbook by Istvan Albert. Obtain RNA-seq test data. The test data consists of two commercially available RNA samples: Universal Human Reference (UHR) and Human Brain Reference (HBR) . Read More...

06/22/2022 - Cancer origination and progression is a complex process that can be viewed as a somatic evolutionary progression with clonal cellular expansion(s) driven by accumulation of survival-/evasion-beneficial genomic mutations, alongside constantly changing selective Read More...

03/20/2017 - BTEP Workshop on RNA-Seq Data Analysis (2-day) This 2-day workshop, which includes both lecture and hands-on components, will cover the fundamentals of and best practices for RNA-Seq Data Analysis. Learn everything from experimental design Read More...

04/04/2016 - This 2-day course, which includes both lecture and hands-on components, will teach the basic concepts and practical aspects of RNA-Seq Data Analysis. Learn everything from experimental design to statistical analysis. This workshop will include Read More...

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