Whole Exome Sequencing to Identify Genetic Causes of Short Stature

Whole exome sequencing to identify genetic causes of short stature.

BACKGROUND/AIMS Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature. METHODS We recruited 14 children with severe short stature of unknown etiology. We conducted whole ex...

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes and point mutations, but are not optimally designed to identify inherited risk alleles. We apply whole-exome sequencing (WES) to ASD families enriched for inherited c...

Whole Exome Sequencing and Large-Scale Targeted Sequencing to Identify Novel Candidate Genes in Idiopathic Short Stature

Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism

BACKGROUND Family studies have shown a strong heritability component for venous thromboembolism (VTE), but established genetic risk factors are present in only half of VTE patients. AIM To identify genetic risk factors in two large families with unexplained hereditary VTE. METHODS We performed whole exome sequencing in 10 affected relatives of two unrelated families with an unexplained tend...

Using Whole-Exome Sequencing to Identify Genetic Markers for Carboplatin and Gemcitabine-Induced Toxicities.

PURPOSE Chemotherapies are associated with significant interindividual variability in therapeutic effect and adverse drug reactions. In lung cancer, the use of gemcitabine and carboplatin induces grade 3 or 4 myelosuppression in about a quarter of the patients, while an equal fraction of patients is basically unaffected in terms of myelosuppressive side effects. We therefore set out to identify...