BOL: Strand's News

Webinar on Diagnosis of Rare Diseases using NGS Based Multi-gene Testing- Case studies by Dr.Aparna Ganapathy on 18 Apr 2018

Strand — Mon, 19 Mar 2018 04:40:58 -0500

A disease is considered to be ‘rare’ when it affects one in about 2000 individuals in the population. This, individually are although rare, collectively, the incidence could be very high causing a significant socio-economic burden. Arriving at a confirmatory diagnosis is a major challenge in these inherited disorders, which can significantly impact treatment and disease management. Conventional genetic testing for rare diseases focuses mostly on sequencing of fewer genes, followed by a deletion/duplica-tion analysis by multiplex ligation-dependent probe amplifi¬cation (MLPA). This sequential testing strategy is time consuming and very expensive. Multi-gene panel based on NGS (next-generation sequencing) can allow us to detect all types of mutations, including large deletions/duplications, thus allowing us to perform a comprehensive genetic testing in a cost-effective manner. Thus, with the advent of NGS technology, the possibility of offering a ‘single platform solution’ for all types of genetic defects can become a reality.

The webinar will highlight some of the interesting case studies wherein multi-gene testing with NGS was helpful in arriving at a confirmatory as well as differential diagnosis, even for complex clinical conditions. With robust bioinformatic analysis, we were able to detect few complex variations in few cases which a conventional test had missed. Some of those cases will also be discussed.

Session 1: 9 am CET, 18 Apr 2018
Session 2: 8 am CET, 18 Apr 2018
To attend, register here: http://www.strand-ngs.com/webinar_registration

About Speaker: Dr. Aparna Ganapathy is Senior scientist- Clinical Diagnostics at Strand Life Sciences. She has over 8 years of experience in human genetics and molecular biology. She received her Ph.D. in Human Molecular Genetics from Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore. At Strand Life Sciences, she is involved in the interpretation and clinical reporting of the genetic disorders. The focus of these genetic tests is to provide accurate and rapid clinical diagnosis for various inherited disorders.

Webinar: Unravelling complex mutational events in clinical cases using the power of NGS data analysis by Dr Satish Sankaran on 31 Jan 2018

Strand — Tue, 26 Dec 2017 02:00:26 -0600

Live webinar on Unravelling complex mutational events in clinical cases using the power of Next generation sequencing data analysis by Dr Satish Sankaran on 31 Jan 2018 at 9am CET and 8am PST

Speaker: Dr. Satish Sankaran, Vice President and Lab Director - Clinical Operations & Clinical Lab, Strand Life Sciences Pvt Ltd

Abstract: Next Generation sequencing has come a long way in aiding genetic disease diagnosis by bringing down both the time and cost of testing. Testing involves massively parallel sequencing of a single to 100s of genes in a one assay. With a large amount of sequence data getting generated from such assays, it is critical that the data is analyzed using standard analysis tools to detect wide range of variants. Strand Life Sciences, has tested more than 3000 clinical samples using multi-gene panels for diagnosis of rare disease conditions. NGS data analysis is done using the Strand NGS software and variant prioritization and reporting using StrandOMICS.

While most analysis software can easily detect single nucleotide variants, the complex ones involving insertions and deletions are usually missed. With multiple iterations the Strand NGS software is trained to effectively detect structural and copy number changes from a single NGS data set. This is critical in certain disease conditions like Retinoblastoma and Duchenne’s Muscular Dystrophy where there are clinically relevant deletions reported.

In this presentation, we present four different case studies where we were able to detect mutations due to unusual and difficult regions in the genome from the NGS data. These results were further confirmed using orthologous methods.

Session 1: 31 Jan 2018; 9:00 AM CET
Session 2: 31 Jan 2018; 8:00 AM PST

Joint webinar by Agilent Technologies and Strand Life Sciences on 'Analysis of Variants using GeneSpring GX' on 6 Dec

Strand — Wed, 15 Nov 2017 06:57:06 -0600

Live webinar on Analysis of Variants using GeneSpring GX 14.9 on 6th Dec at 8 AM PST
Variant analysis workflow in GeneSpring GX is designed for detection, management and analysis of genetic variants such as single nucleotide polymorphisms (SNPs) and InDels. The webinar showcases SNP data analysis from a public repository for identification of germline and somatic mutations. This is a simple workflow for selection of homozygous SNPs from Variant Call Format (VCF) file and for filtering based on heterozygous SNPs, multi-nucleotide polymorphisms (MNPs) and insertion-deletions (InDels). Multi-omic integration of datasets shows related attributes from different datasets in a biologically meaningful way.

Speaker: Dr. Dipa Roy Choudhury, Senior Application Scientist, Agilent Technologies Inc.
Details: December 6, 2017 at 8:00 am PST
Register for this Webinar

Webinar on Unique Molecular Identifier (UMI)-powered Ultra-sensitive Variant Calling using Strand NGS - Case Study

Strand — Tue, 07 Nov 2017 03:55:52 -0600

Webinar on Unique Molecular Identifier-powered Ultra-sensitive Variant Calling using Strand NGS - Case Study

by Dr. Pandurang Kolekar, Bioinformatics Engineer, Strand Life Sciences

Abstract:

Unique Molecular Identifiers (UMIs) are short random nucleotide sequences that are increasingly being used in high-throughput sequencing experiments. In this webinar, we will highlight the UMI-friendly features of Strand NGS v3.1 including support for handling well known and customised UMI libraries, QC metrics, consensus alignment, UMI-based family size filters for read list, genome browser enabled with UMI-specific features and filters, UMI-aware variant calling parameters, and exporting UMI-tagged aligned samples. These all features together empower users to harness the potential of UMI-tagged NGS data for deeper insights. A case study demonstrating application of these UMI-based features in Strand NGS for low frequency variant calling in cfDNA sample will be presented.

UMI-tagged NGS libraries allow, ultra-sensitive detection of low frequency variants from liquid biopsy samples using DNA-Seq and accurate quantification of transcript-level expression using RNA-Seq. The recent release of Strand NGS v3.1, is equipped with the necessary features to efficiently analyse UMI-tagged NGS data helping researchers and labs involved in rare variant calling like in cfDNA based cancer diagnostics, and accurate transcript quantification with RNA-Seq.

Webinar Details:

Session 1: 13 Dec 2017, 2:30 PM IST
Session 2: 13 Dec 2017, 9:30 PM IST

Register here: http://www.strand-ngs.com/webinar_registration