Question

Explain some of the ways whole genome sequence data can be filtered to help identify a disease gene and mutation.

Answer 1

Ans: Genome sequence database: 3-4 million genomic variante Rare common >57. of population {5% of population Diseale associated 40 disease Noncoding coding database association Synonymous Risk Nonsynonymous. assessement for common diseases. Absent or rare in unaffected population controls o? 1000 Cremoneses project populations Segregation with disease Bioinformatics prediction Invitro characterization Crene information: pathogenic varients

=) Around 671 diseases causing mutations are identified by the database sequences → Human Grene Mutation Database gives a collection of germ-line mutations in nuclear genes. These helps to find human inherited genes. =) B4 separating the genes according to coding and non-coding genes. =) Rare coding genes are divided into Synonymous and non-Synonymous » synomymous qenes then undergoes mitiations causing the diseases.