Publications by authors named "Michael D Risley"
Objective: To develop a screening test for fetal trisomy 13, 18, and 21 using cell-free DNA from maternal blood with an automated workflow using the Ion Proton sequencing platform.
Methods: An automated next-generation sequencing workflow was developed using the Ion Proton sequencing platform and software developed for straightforward bioinformatic analysis. An algorithm was developed using 239 samples to determine the likelihood of trisomy, using DNA fragment counts and a fetal fraction validity check; the results were compared with those from invasive diagnostic procedures.
During development, the mammalian embryo must integrate signals to control growth and proliferation. A failure in the ability to respond to mitogenic stimuli can cause embryonic growth restriction. We have identified a mouse mutant, l11Jus15, from a mutagenesis screen that exhibits growth defects and late-gestation lethality.
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- An accurate genome assembly is essential for analyzing functional genomics, and this study explores the use of sequencing to identify mutations on mouse Chromosome 11.
- Researchers re-sequenced over 14,000 annotated exons from 41 mutant mouse lines, discovering 59 genetic variants across 55 genes, with a significant portion located in coding sequences causing missense mutations.
- The findings suggest that large-scale sequencing can effectively pinpoint mutations, including those in conserved noncoding regions, highlighting the ongoing challenge of connecting genetic mutations to specific phenotypes in mammals.