Mehis Pold

mehis pold genomics clinical genetics eomix breast cancer human disease cancer oncogene cholesterol biosynthesis cholesterol cancer risk poor prognosis breast cancer triple negative breast cancer exome sequencing exome gstm1 slc25a13 wrn mlh1 citrullinemia heart failure kidney failure werner syndrome genome annotation pipelins clinical genomics disease diagnostis genomics software disease genomics comparative genomics null-variant start-lost start-lost annotation start codon accuracy of genomics sensitivity and specificity garage genomics genome annotation pipeline genome annotation tropomyosin diagnostic test alk-fusion non-small cell lung cancer somatic variations eml1 eml4 lung cancer alk cosmic ngs automated interpretation of ngs results predictive genomics interpretation of human disease interpretation of genetic finding brca2 brca1 exon-intron boundaries silent mutations dna tumor suppressor genes acceptor site splice site mutation dna repair squalene epoxidase dyregulation of proto-oncogenes ccnd1 dhcr7 synchronicity between oncogenes and cholesterol bi endocrine therapy response er breast cancer conversion of 7-dehyrocholesterol to cholesterol cyclin d1 choromosomal locus 8q24 myc tamoxifen resistance chromosomal locus 11q13 tamoxifen response estrogen positive breast cancer endocrine therapy treatment response statins tamoxifen standard endocrine therapy estrogen positive er pre-market notification pre-market submission 510k ivd in vitro diagnostic device cytochrome c1 cytochrome c ubiquinol-cytochrome c reductase complex iii meta-analysis proton pump kaplan-meier survival probability the mitochondrial hinge protein uqcrh idh2 estrogen receptor idh1 isocitrate dehydrogenase esr-positive esr meta-analysis of gene-expression gain-of-function mutation esr-negative adp-ribosyl transferase 3 art3 stratification of breast cancer novel marker for breast cancer art meta-analysis of breast cancer gene expression targeted therapy for breast cancer hormone treatment refractory breast cancer stratification poor prognosis ttyh1 tweety homolog 1