Christopher A Cassa
Affiliation: Massachusetts Institute of Technology
- Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individualsChristopher A Cassa
Brigham and Women s Hospital, Division of Genetics Boston, Massachusetts, USA
Hum Mutat 34:1216-20. 2013..01 (4.6%) and 2,837 variants with MAF ≥ 0.05 (3.5%). This indicates that many of these variants may be erroneous findings or have lower penetrance than previously expected...
- A novel, privacy-preserving cryptographic approach for sharing sequencing dataChristopher A Cassa
Division of Genetics, Brigham and Women s Hospital, Boston, MA 02215, USA
J Am Med Inform Assoc 20:69-76. 2013..We present a cryptographic scheme to securely transmit externally generated sequence data which does not require any patient identifiers, public key infrastructure, or the transmission of passwords...
- Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibilityChristopher A Cassa
Children s Hospital Informatics Program, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Genome Res 22:421-8. 2012..Additionally, if the growth rate from the previous 4 yr continues, we estimate that the total number of disease-associated variants will grow 37% over the next 4 yr...
- Re-identification of home addresses from spatial locations anonymized by Gaussian skewChristopher A Cassa
Children s Hospital Informatics Program, Children s Hospital Boston, Boston, MA, USA
Int J Health Geogr 7:45. 2008..If several such versions are available, each can be used to incrementally refine estimates of the original geocoded location...
- Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locationsMark Y Tong
Harvard Medical School, Boston, MA 02115, USA
Bioinformatics 27:891-3. 2011..The frequency of unresolved mutation annotations varied widely among the databases, ranging from 4 to 23%. A taxonomy of primary causes for unresolved mutations was produced...
- Dominance of Deleterious Alleles Controls the Response to a Population BottleneckDaniel J Balick
Division of Genetics, Brigham and Women s Hospital, Boston, Massachusetts, United States of America Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America
PLoS Genet 11:e1005436. 2015..Together, these theoretical predictions and empirical observations show that complex demographic history may facilitate rather than impede inference of parameters of natural selection. ..
- Identification of cis-suppression of human disease mutations by comparative genomicsDaniel M Jordan
Division of Genetics, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Nature 524:225-9. 2015....
- A context-sensitive approach to anonymizing spatial surveillance data: impact on outbreak detectionChristopher A Cassa
Children s Hospital Boston, Informatics Program Mandl Group, 1 Autumn Street, 721, Boston, MA 02215 5362 USA
J Am Med Inform Assoc 13:160-5. 2006..Further, we measure the impact of the skew on detection of spatial clustering as measured by a spatial scanning statistic...
- An unsupervised classification method for inferring original case locations from low-resolution disease mapsJohn S Brownstein
Children s Hospital Informatics Program at the Harvard MIT Division of Health Sciences and Technology, 1 Autumn St, Boston, MA, USA
Int J Health Geogr 5:56. 2006..In this report, a method is presented to evaluate whether patient privacy is being breached in the publication of low-resolution disease maps...