Technology Networks

Deep Learning for Variant Calling: How DeepVariant and Neural Networks Are Improving Genomic Accuracy

Deep learning variant calling has transformed genomic accuracy. Discover how DeepVariant works, outperforms classical tools, ...
GitHub

RNA-seq Variant Calling and Functional Annotation Pipeline

A reproducible bioinformatics pipeline for RNA-seq variant discovery, filtering, and functional annotation using GATK, bcftools, and snpEff. This workflow follows GATK best practices adapted for ...
techtimes

DNA Privacy: Open-Source Rosalind Runs Whole-Genome Analysis in 100 MB

The Proton Semiconductor Sequencer from Ion Torrent Systems Inc., a new DNA sequencing machine and chip designed to sequence the entire human genome in about eight hours, is displayed at the Life ...
BMJ

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions

Correspondence to Dr Radoslaw Marek Debiec, Cardiovascular Sciences, University of Leicester College of Medicine Biological Sciences and Psychology, Leicester LE3 9QP, UK; rmd24{at}le.ac.uk Aim The ...
IEEE

GenMPI: Cluster Scalable Variant Calling for Short/Long Reads Sequencing Data

Abstract: Rapid technological advancements in sequencing technologies allow producing cost effective and high volume sequencing data. Processing this data for real-time clinical diagnosis is ...
ascopubs.org

Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study

TARGET: A Randomized, Noninferiority Trial of a Pretest, Patient-Driven Genetic Education Webtool Versus Genetic Counseling for Prostate Cancer Germline Testing Reporting of research-grade germline ...
PNAS

Accurate genomic variant detection in single cells with primary template-directed amplification

Primary template-directed amplification (PTA) is a major improvement in whole genome amplification, which is required to study intratissue cellular evolution. As presented in the manuscript, PTA ...
Frontiers

A Benchmark of Genetic Variant Calling Pipelines Using Metagenomic Short-Read Sequencing

Microbes live in complex communities that are of major importance for environmental ecology, public health, and animal physiology and pathology. Short-read metagenomic shotgun sequencing is currently ...