Low-cost genome sequencing approach is powering genetics research on mental illness and many other studies

For researchers on the hunt for the genetic roots of disease, the cost of deep whole-genome sequencing makes it challenging ...
Medical Xpress

Poor coverage of specific gene sets in exome sequencing gives cause for concern

Researchers have analysed 44 exome datasets from four different testing kits and shown that they missed a high proportion of clinically relevant regions. At least one gene in each exome method was ...
Medical Xpress

Integrative exome sequencing and machine learning identify new genes contributing to systemic sclerosis risk

Systemic sclerosis (SSc) is a severe autoimmune disease with complex genetic causes. Some genetic contributors have been identified, but others remain unknown, which has impeded development of ...
The New England Journal of Medicine

Genome Sequencing for Diagnosing Rare Diseases

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 ...
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 ...