Provided herein are compositions and methods for determining the quality of nucleic acids in a sample that includes a first set of primers and a second set of primers. Additionally, provided herein are compositions and methods for determining nucleic the acid quality in a sample including sets of primers for amplification of repetitive nucleic acid sequences.

Provided herein are compositions and methods for determining the quality of nucleic acids in a sample that includes a first set of primers and a second set of primers. Additionally, provided herein are compositions and methods for determining nucleic the acid quality in a sample including sets of primers for amplification of repetitive nucleic acid sequences.

Disclosed herein are methods and compositions for human identification using polymorphisms in the Penta E short tandem repeat locus. These newly disclosed polymorphisms are significant in preventing allelic drop out.

Disclosed herein are methods and compositions for human identification using polymorphisms in the Penta E short tandem repeat locus. These newly disclosed polymorphisms are significant in preventing allelic drop out.

This disclosure relates to methods of determining the presence and position of AGG or interruptor elements within a trinucleotide (for example, CGG) repeat region, and to methods of determining the number of repeats present in this region, by amplifying a set of products with a set of primers of which at least one comprises a portion of the CGG repeat region, and resolving the products to produce a representation of product size and abundance.

This disclosure relates to methods of determining the presence and position of AGG or interruptor elements within a trinucleotide (for example, CGG) repeat region, and to methods of determining the number of repeats present in this region, by amplifying a set of products with a set of primers of which at least one comprises a portion of the CGG repeat region, and resolving the products to produce a representation of product size and abundance.

In a method of deducing the number of repeat units in a selected short tandem repeat (STR) in a genomic sample, at least a single stranded target DNA generated from a genomic sample comprising a selected STR, an STR probe (P1,P1′), a reference probe (P2), and two blockers (B1,B2) are provided, and at least three differential hybridization experiments are carried out, based on which the number of STR probe oligonucleotides (P1,P1′) bound per target DNA strand in each differential hybridization experiment is determined. The method further comprises the step of comparing these numbers of STR probe oligonucleotides (P1,P1′) bound per target DNA strand in the differential hybridization experiments for deducing the number of repeat units in the selected STR on the single stranded target DNA strand. Also disclosed are kits for carrying out STR genotyping by differential hybridization.

A method and a kit for determining genome instability based on next generation sequencing (NGS) are disclosed. The new method is used to determine whether there is homologous recombination defect by calculating a comprehensive value of one or more of pathogenic germline and somatic mutations, such as SNV, indels, and CNVs, and Biallelic germline and somatic mutations, pathogenic mutational signature, copy number variation (CNV) in homologous recombination repair (HRR) gene, genomic structural variation and genome instability. The genomics DNA is interrupted and added with an A adapter; then corresponding polymerase chain reaction (PCR) is conducted, and Whole genome sequencing is performed; the hybrid capture is conducted with designed probes of HRR genes and SNPs, and a captured DNA library is subjected to amplification and library sequencing; and then professional bioinformatics software is used for evaluation to determine the homologous recombination deficiency (HRD) status.

A method and a kit for determining genome instability based on next generation sequencing (NGS) are disclosed. The new method is used to determine whether there is homologous recombination defect by calculating a comprehensive value of one or more of pathogenic germline and somatic mutations, such as SNV, indels, and CNVs, and Biallelic germline and somatic mutations, pathogenic mutational signature, copy number variation (CNV) in homologous recombination repair (HRR) gene, genomic structural variation and genome instability. The genomics DNA is interrupted and added with an A adapter; then corresponding polymerase chain reaction (PCR) is conducted, and Whole genome sequencing is performed; the hybrid capture is conducted with designed probes of HRR genes and SNPs, and a captured DNA library is subjected to amplification and library sequencing; and then professional bioinformatics software is used for evaluation to determine the homologous recombination deficiency (HRD) status.

The present invention is directed to methods and compositions for acquiring nucleotide sequence information of target sequences using adaptors interspersed in target polynucleotides. The sequence information can be new, e.g. sequencing unknown nucleic acids, re-sequencing, or genotyping. The invention preferably includes methods for inserting a plurality of adaptors at spaced locations within a target polynucleotide or a fragment of a polynucleotide. Such adaptors may serve as platforms for interrogating adjacent sequences using various sequencing chemistries, such as those that identify nucleotides by primer extension, probe ligation, and the like. Encompassed in the invention are methods and compositions for the insertion of known adaptor sequences into target sequences, such that there is an interruption of contiguous target sequence with the adaptors. By sequencing both “upstream” and “downstream” of the adaptors, identification of entire target sequences may be accomplished.