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Focus: Disease Genetics

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

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