npj Genomic Medicine
This is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine.
A genotype imputation reference panel specific for native Southeast Asian populations
We developed a “Southeast Asian Specific Reference Panel”. When imputing the native SEA and the SGVP datasets, this panel produced more high confidence variants, better estimated quality scores, higher recall and non-reference disconcordance rates as opposed to other public reference panels.
Integrating Somatic CNV and Gene Expression in Breast Cancers from Women with PTEN Hamartoma Tumor Syndrome
Copy number variation and transcript features from breast cancers arising in the setting of germline PTEN mutations revealed distinct biological characteristics compared to sporadic breast cancers.
Developing the genomic workforce: insights from a national survey
Genomic medicine is being implemented on a global scale, requiring a genomic-competent health workforce. Here we describe the 'behind the scenes' thinking for our national survey of non-genetic physicians, and how the insights can be used to inform education as part of implementation strategies.
