Webinar on Unique Molecular Identifier (UMI)-powered Ultra-sensitive Variant Calling using Strand NGS on 13 Dec at 2:30 PM and 9:30 PM IST by Dr.Pandurang Kolekar

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 … Continue reading “Webinar on Unique Molecular Identifier (UMI)-powered Ultra-sensitive Variant Calling using Strand NGS on 13 Dec at 2:30 PM and 9:30 PM IST by Dr.Pandurang Kolekar”

Decoding Breast Cancer using Strand NGS DNA Variant analysis

One of the most dreaded diseases mankind has faced in recent times is cancer. Because of high morbidity and mortality rates that cancer brings it is a fearsome disease. When we hear about cancer no one believes that it can happen to them or to anyone else close. But the reality is far from this. … Continue reading “Decoding Breast Cancer using Strand NGS DNA Variant analysis”

The tyranny of large numbers: mutations in breast cancer

What’s in a number? Small numbers are roguish capsules of triple meaning. The number 7 is the date you were married; it’s the exact number of teaspoons of sugar in a halwa recipe your mom sent you; it’s the age of your eldest son on his next birthday. As we get older, we become acquainted … Continue reading “The tyranny of large numbers: mutations in breast cancer”

Accuracy puts the there in speed: DNA-Seq stuff!

In certain circles, asking why speed is good is tantamount to heresy. I once submitted a paper with the phrase “computational performance is not an explicit goal of this work” in the abstract. It was rejected; in his explanatory note, the reviewer had said that my approach was “unlikely to yield great speedups,” and that … Continue reading “Accuracy puts the there in speed: DNA-Seq stuff!”

Webinar on fast and accurate variant calling

Continuing our DNA-Seq webinar series, we’ll present Strand NGS v3.0 best-practices: a workflow that identifies highly accurate variants from raw reads. Our best practices workflow is twice as fast as its GATK counterpart, and results in precision/recall rates of up to 99%/98% on whole exome and whole genome samples. We’ll also speak briefly about some … Continue reading “Webinar on fast and accurate variant calling”

It’s pronounced three dot oh

Getting things to “just work” is hard. Getting them to just work and be good is harder. With StrandNGS 3.0, we believe we’ve done both. A quarter year’s labour of love, three dot oh feels different because it is different; it feels good because it is. RNA alignment is faster. If you’re using transcriptome + genome alignment, you … Continue reading “It’s pronounced three dot oh”

Rare diseases: or, what happens when backups fail

Ploidy is a funny old Greek word for a modern, almost modish concept: data backups. Ploidy is the number of copies of an organism’s DNA. Certain kinds of algae, for instance, don’t buy into backups; they’re haploid, and contain only a single copy of DNA. Plants, on the other hand, are polyploidal; paranoiacs of the … Continue reading “Rare diseases: or, what happens when backups fail”

Webinar on DNA-Seq data analysis- Case studies

DNA-Seq data can be analyzed and visualized using an extensive workflow in Strand NGS software. The software has been designed for the biologists. Strand NGS supports analysis of whole exome, whole genome and targeted sequencing experiments. The DNA-Seq workflow includes the ability to detect variants (SNPs, MNPs and short InDels), annotate them with dbSNP, and … Continue reading “Webinar on DNA-Seq data analysis- Case studies”

The clinical workflow, retinoblastoma and split alignment

    Retinoblastoma is an “oma” named for its surface effect, its “presentation”:  it’s a cancer that attacks the eye. Worse, because 80% of retinoblastoma diagnoses occur before the age of 3, it’s a cancer that attacks the eyes—almost exclusively—of little children. Retinoblastoma is a “good cancer”: 90% of all RB cases survive into adulthood. … Continue reading “The clinical workflow, retinoblastoma and split alignment”

Webinar on Implications of Next Generation Sequencing in Molecular Diagnosis of Cancer

Genetic testing requires screening of the entire gene, which by conventional sequencing is time consuming and expensive. Next Generation Sequencing (NGS) based approaches increase the sensitivity of mutation detection, making it fast and cost-effective compared to the conventional tests performed in a reflex-testing mode. Strand NGS includes workflows with quality assessment and filter sections that … Continue reading “Webinar on Implications of Next Generation Sequencing in Molecular Diagnosis of Cancer”