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Clinical genetics involves the study, counselling and treatment of individuals and families with heritable disorders and disease predisposition. Diagnostic tools include standard ontologies for describing dysmorphology and traits, pedigree analysis, disease locus mapping by linkage or homozygosity, karyotyping, genome sequencing and genotyping.
Girish et al. designed a method to genetically remove extra chromosomes from human aneuploid cancer cells to show that they are important for malignant growth and not just a bystander.
We functionally assessed clinically observed mutations of the BRCA2 gene and analysed structure–function relationships of variants of the gene by using high-throughput CRISPR-mediated mutagenesis and pooled screening in locally haploid human pluripotent stem cells and in fibroblasts differentiated from them.
