Genome Analysis


Гео и язык канала: не указан, Английский
Категория: Медицина


Videos, presentations, podcasts, tutorials, educational resources, and a lecture series covering contemporary areas in genomics and bioinformatics.
🆔 @GenomeAnalysis

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Гео и язык канала
не указан, Английский
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Медицина
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🔴 SPRING is a compression tool for Fastq files (containing up to 4.29 Billion reads):

🔸Near-optimal compression ratios for single-end and paired-end datasets

🔸Fast and memory-efficient decompression

🔸Supports variable length short reads of length upto 511 bases (without -l flag)

🔸Supports variable length long reads of arbitrary length (upto 4.29 Billion) (with -l flag). This mode directly applies general purpose compression (BSC) to reads and so compression gains might be lower than those without -l flag.

🔸Supports lossless compression of reads, quality scores and read identifiers

🔸Supports reordering of reads (while preserving read pairing information) to boost compression

🔸Supports quantization of quality values using QVZ, Illumina 8-level binning and binary thresholding

🔸Supports decompression of a subset of reads (random access)

🔸Supports gzipped fastq files as input (output) during (de)compression

🔸Tested on Linux and macOS



🔹https://doi.org/10.1093/bioinformatics/bty1015

@GenomeAnalysis


🔴Webinar:Analyzing Complex Genomic Variants in Somatic Cancer


Date: April 2, 2020

Time: 12:00 pm EDT (11:00 am CDT, 10:00 am MDT, 9:00 am PDT, 4:00 pm GMT)

Register Now: https://info.pieriandx.com/analyzing-complex-genomic-variants



🔵Abstract

Next generation sequencing (NGS) technologies facilitate the accurate detection of genetic variants. Yet, the process of analyzing and classifying more complex alterations using a standard variant lookup table remains challenging.

In this informative webinar, we focus on gene fusions, co-occurring variants, copy number variants, and tumor mutational burden (TMB), and we provide practical strategies for analyzing and classifying these complex variants using a highly-curated, rules-based knowledgebase in the context of somatic cancer.

By attending this webinar, you will:

Gain strategies for filtering, classifying, and interpreting variants within a clinical context.

Learn about bioinformatic methods for calling variants and assessing quality.

See example reports using de-identified samples for several popular NGS assays, including Archer VariantPlex® and FusionPlex®, TruSight™ Oncology 500, and AmpliSeq.

@GenomeAnalysis


Iranome_A_catalog_of_genomic_variations.pdf
560.6Кб
🔴 Iranome A catalog of genomic variations in the Iranian population


🔴 Practical on Genomics and NGS (NGS workflow to determine disease-causing mutation)

🔷 https://bioinfo.perdanauniversity.edu.my/infohub/display/NGS/Practical+on+Genomics+and+NGS

@GenomeAnalysis




🔴 RNA-seq Data Analysis: A Practical Approach
(ebook)

🔷 The State of the Art in Transcriptome Analysis
RNA sequencing (RNA-seq) data offers unprecedented information about the transcriptome, but harnessing this information with bioinformatics tools is typically a bottleneck. RNA-seq Data Analysis: A Practical Approach enables researchers to examine differential expression at gene, exon, and transcript levels and to discover novel genes, transcripts, and whole transcriptomes.

Balanced Coverage of Theory and Practice
Each chapter starts with theoretical background, followed by descriptions of relevant analysis tools and practical examples. Accessible to both bioinformaticians and nonprogramming wet lab scientists, the examples illustrate the use of command-line tools, R, and other open source tools, such as the graphical Chipster software.

The Tools and Methods to Get Started in Your Lab
Taking readers through the whole data analysis workflow, this self-contained guide provides a detailed overview of the main RNA-seq data analysis methods and explains how to use them in practice. It is suitable for researchers from a wide variety of backgrounds, including biology, medicine, genetics, and computer science. The book can also be used in a graduate or advanced undergraduate course.

@GenomeAnalysis




🔴 Bioinformatics: A Practical Handbook of Next Generation Sequencing and Its Applications (ebook)


🔷 Rapid technological developments have led to increasingly efficient sequencing approaches. Next Generation Sequencing (NGS) is increasingly common and has become cost-effective, generating an explosion of sequenced data that need to be analyzed. The skills required to apply computational analysis to target research on a wide range of applications that include identifying causes of cancer, vaccine design, new antibiotics, drug development, personalized medicine and higher crop yields in agriculture are highly sought after.
This invaluable book provides step-by-step guides to complex topics that make it easy for readers to perform essential analyses from raw sequenced data to answering important biological questions. It is an excellent hands-on material for teachers who conduct courses in bioinformatics and as a reference material for professionals. The chapters are written to be standalone recipes making it suitable for readers who wish to self-learn selected topics. Readers will gain skills necessary to work on sequenced data from NGS platforms and hence making themselves more attractive to employers who need skilled bioinformaticians to handle the deluge of data.

🔷 Readership: It is a necessary companion for undergraduates, graduate students, researchers and anyone interested in the exponentially growing field of bioinformatics.

@GenomeAnalysis


🔴 Register for the webinar:
Implementing and Scaling a Rapid Whole Genome Sequencing Test at Rady Children's Institute for Genomic Medicine

🔹 March 21, 2019
1PM (EST) / 10AM (PT)

🔷 In this presentation, Dr. Katarzyna Ellsworth, Associate Laboratory Director at Rady Children's Institute for Genomic Medicine, will discuss the launching and scaling of clinical NGS testing in a children’s hospital environment, utilizing Fabric Enterprise for the rapid interpretation of genomic data to decrease turnaround time and increase diagnostic yield. Rady is advancing rapid whole genome testing as a first-line test to diagnose critically ill children in the NICU and PICU.

Register here: https://bit.ly/2UwDWOM

@GenomeAnalysis


🔴 First Blockchain-based Genomic Data Marketplace Launches

EncrypGen will enable individuals to sell their deidentified data for research.
To read more click at https://bit.ly/2QA1pfM

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Mapping genes within the nucleus: The NIH Director's Blog describes a new tagging technique and the potential for better understanding relationships between structure and function. http://bit.ly/2OdZ8tI

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🔴 If you are looking to reduce your budget for NGS Whole Exome or Transcriptome Sequencing, keep reading!

BGI is offering special fall pricing on sequencing services from it’s own DNBseqTM sequencing technology, to make your research budget go further:
Whole Exome Sequencing From $249 for a single sample
Transcriptome Sequencing From $149


Learn more: https://bgi-international.us11.list-manage.com/track/click?u=8bd0c43fa87d479997bfb53b2&id=804efde159&e=930d96ca7b

@GenomeAnalysis


Characterizing reduced coverage regions through comparison.pdf
627.4Кб
🔴 Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

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🔴Optimizing ES–based diagnostics of a clinically diverse patient population

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🔴 Under the new guidelines, the companies say they will obtain consumers' “separate express consent” before turning over their individual genetic information to businesses and other third parties, including insurers.
https://wapo.st/2vAp46J

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Видео недоступно для предпросмотра
Смотреть в Telegram
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🔴 Webinar: Rapid Whole Genome Sequencing in the NICU and PICU Decreases Infant Morbidity and Mortality

Presented By: Stephen Kingsmore, MD - President and CEO, Rady Children's Institute for Genomic Medicine

Webinar Abstract: Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are key to pinpointing an accurate diagnosis. The Rady Children’s Institute for Genomic Medicine has engineered a Whole Genome Sequencing process to rapidly decode, analyze and interpret the root causes of rare genetic disorders in newborns and children in intensive care in a matter of days. RCIGM president and CEO Stephen Kingsmore, MD, DSc, discusses how his team is working to equip clinicians with this critical information to facilitate medical decision making.

@GenomeAnalysis

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