US 11,869,630 B2
Screening system and method for determining a presence and an assessment score of cell-free DNA fragments
Nicholas Lench, Cambridge (GB); Matt Hurles, Cambridge (GB); John McGonigle, Cambridge (GB); Alan Martin, Cambridge (GB); and Suzanne Drury, Cambridge (GB)
Assigned to CONGENICA LTD., Cambridge (GB)
Appl. No. 16/632,071
Filed by CONGENICA LTD., Cambridge (GB)
PCT Filed Jul. 18, 2018, PCT No. PCT/EP2018/069559
§ 371(c)(1), (2) Date Jan. 17, 2020,
PCT Pub. No. WO2019/016289, PCT Pub. Date Jan. 24, 2019.
Claims priority of application No. 1711523 (GB), filed on Jul. 18, 2017; application No. 1711528 (GB), filed on Jul. 18, 2017; application No. 1711536 (GB), filed on Jul. 18, 2017; and application No. 1711540 (GB), filed on Jul. 18, 2017.
Prior Publication US 2021/0027856 A1, Jan. 28, 2021
Int. Cl. G16B 20/20 (2019.01); G16B 20/50 (2019.01); G16B 30/00 (2019.01)
CPC G16B 20/20 (2019.02) [G16B 20/50 (2019.02); G16B 30/00 (2019.02)] 18 Claims
 
1. A screening system comprising:
a wet-laboratory arrangement configured to determine a presence of cell-free DNA fragments in a biological sample comprising one or more maternal blood samples from a pregnant mother by enriching cell free fetal DNA fragments present in cell-free DNA derived from plasma of the one or more maternal blood samples that start within a nucleosome and have a shorter nucleic acid base count than an average length nucleic acid base count of cell-free DNA in the one or more maternal blood samples to sequence the cell-free DNA fragments; and
a data processing arrangement comprising a non-transitory computer-readable storage medium comprising computer instructions, wherein the data processing arrangement under control of the computer instructions is configured to:
compare information representative of the sequenced DNA fragments against information stored in a genomic database arrangement to provide an assessment score with respect to the biological sample; and
apply a modification to one or more stochastic ratings associated with the information representative of the sequenced DNA fragments using secondary information provided to the screening system to reduce a stochastic and/or systemic uncertainty present in the assessment score.