Nature

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort

Clinical exome sequencing (CES) is a routine diagnostic tool for rare Mendelian genetic disorders. The reported rate for identification of the causative single nucleotide variant (SNV) or ...
Business Wire

Parse Biosciences Launches Trailmaker Data Analysis Platform to Simplify Single Cell Sequencing

SEATTLE--(BUSINESS WIRE)--Parse Biosciences, a leading provider of accessible and scalable single cell sequencing solutions, today announced the availability of Trailmaker™, its user-friendly cloud ...
Nature

A multi-omic meta-analysis reveals novel mechanisms of insecticide resistance in malaria vectors

These data are presented within a python package, AnoExpress, made for the community, with example notebooks provided to run in Google Colab. Users can load, explore, and visualise the gene expression ...
National Academies of Sciences%2c Engineering%2c and Medicine

Making Sense of Complexity: Summary of the Workshop on Dynamical Modeling of Complex Biomedical Systems

One of the major themes brought out by the workshop was the interplay between theory and data, but the discussions in preceding chapters do not mention how much data must be dealt with. In fact, the ...
Labroots

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 ...
ascopubs.org

Identification and Validation of Prognostic Model for Tumor Microenvironment-Associated Genes in Bladder Cancer Based on Single-Cell RNA Sequencing Data Sets

Combined Transcriptome and Circulating Tumor DNA Longitudinal Biomarker Analysis Associates With Clinical Outcomes in Advanced Solid Tumors Treated With Pembrolizumab The prognostic model demonstrated ...