[PDF][PDF] Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
There are more than 7,000 rare diseases, some of which affect 3,500 or fewer patients in the
US. Due to clinicians' limited experience with such diseases and the considerable …
US. Due to clinicians' limited experience with such diseases and the considerable …
Discovering monogenic patients with a confirmed molecular diagnosis in millions of clinical notes with MonoMiner
DW Wu, JA Bernstein, G Bejerano - Genetics in Medicine, 2022 - Elsevier
Purpose Cohort building is a powerful foundation for improving clinical care, performing
biomedical research, recruiting for clinical trials, and many other applications. We set out to …
biomedical research, recruiting for clinical trials, and many other applications. We set out to …
Development of gene-prioritising methods using statistical genetics and clinical annotation for rare genetic disorders
A Favier - 2022 - theses.hal.science
To this day, near 70% of patients suffering from Mendelian diseases remain without any
diagnosis after their DNA sequencing. There is a need to study those disorders regarding …
diagnosis after their DNA sequencing. There is a need to study those disorders regarding …