Abstract: The present invention provides methods for isolation of a member of a population which has one or more mutation(s) in one or more target sequence(s) in a population. The method may comprise the steps of: (a) pooling genomic DNA isolated from each member of the population in one or more dimensions; (b) amplifying the one or more target sequence(s) in the pooled genomic DNA, wherein optionally the amplification products are pooled; (c) sequencing the amplified products or obtaining the sequence reads for the amplified products, wherein, optionally, sequencing is by pair-end sequencing and further comprises merging the paired-end reads into composite read(s); (d) identifying the mutation(s) based on alignment-free sequence analysis of sequencing data, optionally by k-mer analysis and (e) identifying individual member(s) of the population comprising the one or more identified mutations in the target sequences, optionally by high-resolution DNA melting (HRM).

Abstract: The present invention provides methods for isolation of a member of a population which has one or more mutation(s) in one or more target sequence(s) in a population. The method may comprise the steps of: (a) pooling genomic DNA isolated from each member of the population in one or more dimensions; (b) amplifying the one or more target sequence(s) in the pooled genomic DNA, wherein optionally the amplification products are pooled; (c) sequencing the amplified products or obtaining the sequence reads for the amplified products, wherein, optionally, sequencing is by pair-end sequencing and further comprises merging the paired-end reads into composite read(s); (d) identifying the mutation(s) based on alignment-free sequence analysis of sequencing data, optionally by k-mer analysis and (e) identifying individual member(s) of the population comprising the one or more identified mutations in the target sequences, optionally by high-resolution DNA melting (HRM).

Abstract: The present invention provides high-throughput methods of screening for members of a population comprising mutation(s) in one or more target sequence(s). The methods may comprise the steps of: pooling genomic DNA isolated from each member of said population; amplifying the one or more target sequence(s) in the pooled genomic DNA; pooling the amplification products of step (b) to create a library of amplification products; sequencing the amplified products by pair-end sequencing to produce paired-end reads for each sequencing reaction or obtaining paired-end sequence reads for the amplified products; merging the paired-end reads into composite read(s); mapping the composite read(s) to reference sequence(s) to identify mutation(s) in the one or more target sequence(s); and identifying member(s) of the population comprising one or more of the identified mutations in the target sequence(s). The invention further provides kits for use with the methods.