US 11,655,498 B2
Systems and methods for genetic identification and analysis
Darrell Orlyn Ricke, Winchester, MA (US); James Harper, Jamaica Plain, MA (US); Brian S. Helfer, Brookline, MA (US); Joseph Isaacson, Latham, NY (US); Adam M. Michaleas, Hudson, NH (US); Martha S. Petrovick, Barre, MA (US); Eric Schwoebel, Woburn, MA (US); Anna Shcherbina, East Palo Alto, CA (US); Philip Fremont-Smith, Medford, MA (US); James G. Watkins, Sutton, MA (US); and Edward C. Wack, Waltham, MA (US)
Assigned to Massachusetts Institute of Technology, Cambridge, MA (US)
Appl. No. 16/629,081
Filed by Massachusetts Institute of Technology, Cambridge, MA (US)
PCT Filed Jul. 6, 2018, PCT No. PCT/US2018/041081
§ 371(c)(1), (2) Date Jan. 7, 2020,
PCT Pub. No. WO2019/010410, PCT Pub. Date Jan. 10, 2019.
Claims priority of provisional application 62/529,939, filed on Jul. 7, 2017.
Claims priority of provisional application 62/534,590, filed on Jul. 19, 2017.
Prior Publication US 2021/0017592 A1, Jan. 21, 2021
Int. Cl. C12Q 1/68 (2018.01); C12Q 1/6858 (2018.01); G16B 40/10 (2019.01); C12Q 1/6869 (2018.01); C12Q 1/6886 (2018.01); G16B 20/00 (2019.01)
CPC C12Q 1/6858 (2013.01) [C12Q 1/6869 (2013.01); C12Q 1/6886 (2013.01); G16B 20/00 (2019.02); G16B 40/10 (2019.02); C12Q 2600/156 (2013.01)] 20 Claims
OG exemplary drawing
 
1. A DNA analysis system, the system comprising:
at least one processor operatively connected to a memory;
a comparison component configured to generate a first error profile for a first DNA locus by comparing read data for the first DNA locus to known reference sequences for the first DNA locus;
a receiver component configured to receive DNA analysis information including locus and allele read information generated from PCR amplification of DNA in a DNA sample;
an analysis component, executed by the at least one processor, configured to:
evaluate the locus and allele read information against the first error profile to determine an adjusted read threshold;
confirm presence of the first locus and allele in the DNA sample;
responsive to the confirmed presence of the first locus and allele information adjust error analysis of at least a second allele or at least a second locus to account for amplification error reads of the confirmed first locus and allele in the DNA sample; and
determine for each respective locus and allele associated with read data obtained from the DNA sample whether a total number of reads from the DNA sample exceeds an error profile adjusted threshold, and for each confirmation or exclusion of read data adjust the threshold based on the confirmation or exclusion.