Homozygosity stretches around homozygous mutations in autosomal recessive disorders: patients from nonconsanguineous Indian families
Shubha R. Phadke, Priyanka Srivastava, Pankaj Sharma, Archana Rai, Suzena Masih
Topics & Concepts
BiologyDisease gene identificationGeneticsRuns of HomozygosityConsanguinityCompound heterozygosityFounder effectMutationGeneGenotypeHaplotypeExome sequencingSingle-nucleotide polymorphismGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCRISPR and Genetic Engineering