Clinical exome reanalysis: current practice and beyond
J Ji, ML Leung, S Baker, JL Deignan… - Molecular Diagnosis & …, 2021 - Springer
Novel gene-disease discoveries, rapid advancements in technology, and improved
bioinformatics tools all have the potential to yield additional molecular diagnoses through …
bioinformatics tools all have the potential to yield additional molecular diagnoses through …
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers
Most causal variants of Mendelian diseases are exonic. Whole‐exome sequencing (WES)
has become the diagnostic gold standard, but causative variant prioritization constitutes a …
has become the diagnostic gold standard, but causative variant prioritization constitutes a …
An automated multi-modal graph-based pipeline for mouse genetic discovery
Z Fang, G Peltz - Bioinformatics, 2022 - academic.oup.com
Motivation Our ability to identify causative genetic factors for mouse genetic models of
human diseases and biomedical traits has been limited by the difficulties associated with …
human diseases and biomedical traits has been limited by the difficulties associated with …