Read the latest papers on Disease Genetics across BMC flagship journals.
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
Vikas Bansal et al.
Published in BMC Medicine 06 December 2017
Pathological mutations differentially affect the self-assembly and polymerisation of the innate immune system signalling adaptor molecule MyD88
Ailis O'Carroll et al.
Published in BMC Biology 24 December 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Alba Sanchis-Juan et al.
Published in Genome Medicine 07 December 2018
Chromatin interactome mapping at 139 independent breast cancer risk signals
Jonathan Beesley et al.
Published in Genome Biology 02 January 2020
