6 Result(s)

Article

DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants

The majority of human genetic diseases are caused by single nucleotide variants (SNVs) in the genome sequence. Excitingly, new genomic techniques known as base editing have opened efficient pathways to correct...

Ariel Dadush, Rona Merdler-Rabinowicz, David Gorelik, Ariel Feiglin… in npj Genomic Medicine (2024)

Article

Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease

There are now over 2000 loci in the human genome where genome wide association studies (GWAS) have found one or more SNPs to be associated with altered risk of a complex trait disease. At each of these loci, t...

Lipika R Pal, Chen-Hsin Yu, Stephen M Mount, John Moult in BMC Genomics (2015)

Article

Genetic basis of common human disease: insight into the role of nonsynonymous SNPs from genome-wide association studies

Lipika R Pal, John Moult in Genome Biology (2011)

Article

Genetic basis of common human disease: insight into the role of nonsynonymous SNPs from genome-wide association studies

Lipika R Pal, John Moult in Genome Biology (2011)

Article

Tracing the origin of functional and conserved domains in the human proteome: implications for protein evolution at the modular level

The functional repertoire of the human proteome is an incremental collection of functions accomplished by protein domains evolved along the Homo sapiens lineage. Therefore, knowledge on the origin of these functi...

Lipika R Pal, Chittibabu Guda in BMC Evolutionary Biology (2006)