SYSTEMS AND METHODS FOR NEXT GENERATION SEQUENCING UNIFORM PROBE DESIGN

Systems and methods are provided for balancing a probe set for enriching a plurality of genomic loci. A nucleic acid probe set containing pools of nucleic acid probe species is obtained. Each probe species aligns to a different subsequence of a respective locus and includes proportions of a capture...

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Hauptverfasser: KUTTAB-BOULOS, Hala, Samir, BLIDNER, Richard
Format: Patent
Sprache:eng ; fre ; ger
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Zusammenfassung:Systems and methods are provided for balancing a probe set for enriching a plurality of genomic loci. A nucleic acid probe set containing pools of nucleic acid probe species is obtained. Each probe species aligns to a different subsequence of a respective locus and includes proportions of a capture moiety conjugated version and a capture moiety-free version. Each probe species in a pool aligns to a portion of the genome that is at least 100 nucleotides away from any other probe species in the pool. Each pool in the probe set is separately analyzed against reference nucleic acid samples to obtain recovery rates and identify probe species that do not satisfy a minimum or a maximum recovery rate threshold. An adjusted version of a final design for the probe set is established by adjusting proportions of capture moiety conjugated and capture moiety-free versions for the identified probe species.