Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Blood type A(B) is caused by a four gene mutations and was discovered when the blood of patients and donors was being studied ...

New research published in Nature Communications has linked a normal cellular process to an accumulation of DNA mutations in ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...

Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing ...

A new study reveals 42 hereditary genes which predispose individuals to a higher number of mutations that correlate with a greater probability of developing cancer. A study of 11,000 cancer patients ...

Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects ...

For years scientists have tried to find a gene for conditions like schizophrenia, Alzheimer’s and autism. But the real source could lie in a much more complex genetic puzzle. When Mike McConnell ...