Sanger sequencing is the unsung workhorse of molecular biology, one whose value has long been undermined by the tedious nature of processing its data. Converting files of raw sequencing data into a ...
An individual’s genome is identifiable. But datasets of RNA sequences from single cells are like a blurry photocopy of the genome. The sequence numbers are small, the data are noisy, and the sequences ...
Human disease is complex and influenced by a wide range of genomic variants. Sequencing accuracy is paramount in order to detect this vast array of genomic dysfunction. In genomic and multiomic ...
According to MarketsandMarkets™, The report Single-molecule Real-time (SMRT) Sequencing Market is projected to grow from USD 2.92 billion in 2025 and to reach 5.32 billion by 2030, at a Compound ...
The first resource containing high-resolution DNA sequencing data for over 37,000 children and parents collected over multiple decades from across the UK is now available to researchers worldwide. The ...
Different teams need to make the same conclusion multiple times before a consensus is reached and the finding can be built ...
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
Much like software and data analytics reshaped industries like finance and retail, a similar transformation is now creating a new landscape for investors in medicine. Genomics stands at the forefront ...
The Next Generation Sequencing (NGS) field has been in constant flux since a wave of newcomers entered the field several years ago that changed the game. The startups offered sequencing users new ...
Understanding Bioinformatics Workflows for NGS Analysis: Case Study with Whole-exome Sequencing Data
NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...
This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...
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