Julie K Thomas, Jorie Colbert-Getz, Rachel Bonnett, Mariah Sakaeda, Jessica M Hurtado, Candace Chow
"What's Next in My Arc of Development?": An Exploratory Study of What Medical Students Need to Care for Patients of Different Backgrounds
Teaching and learning in medicine
idiopathic recurrent pregnancy loss rpl defined least two pregnancy losses 20 weeks gestation approximately 5 pregnant couples experience idiopathic rpl heterogeneous disease various causes including hormonal chromosomal intrauterine abnormalities although pregnancy loss occurs still unknown numerous biological factors associated incidence pregnancy loss including genetic variants wholeexome sequencing wes conducted blood samples 56 korean patients rpl 40 healthy controls wes data aligned means bioinformatic analysis detected variants annotated using machine learning tools predict pathogenicity protein alterations indicated variant confirmed using sanger sequencing replication study also conducted 112 patients 114 controls variant effect scoring tool combined annotation dependent depletion tool sorting intolerant tolerant annotation tool various databases detected 10 potential variants previously associated spontaneous abortion genes patients means bioinformatic analysis wes data several variants detected one patient interestingly several detected genes functionally clustered including secretory function mucin 4 muc4 rs200737893 ga hyaluronanbinding protein 2 habp2 rs542838125 gt growth arrestspecific 2 like 2 gas2l2 rs140842796 ct dynamin 2 dnm2 rs763894364 ga functionally associated cell protrusion cytoskeleton atp binding cassette subfamily c member 6 abcc6 gene two variants habp2 rs542838125 gt muc4 rs200737893 ga gas2l2 rs140842796 ct detected patient group replication study combination wes machine learning tools useful method detect potential variants associated rpl using bioinformatic tools found 10 potential variants 9 genes wes data patients needed better understand causes rpl