Myriad Genetics, Inc.

Dmitry Pruss

Thomas M Scholl

Brant C Hendrickson

Min-Jui Richard Shen

Benjamin Ward

Satish K Bhatnagar

Nadeem Tusneem

Large deletions have been identified in the BRCA1 gene in patients. The large deletions predispose the patients to breast cancer and ovarian cancer. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.

Large deletions in human BRCA1 gene and use thereof

Methods, computer program products and systems are provided for detecting large genomic rearrangements based on unphased genotype data obtained using common genotyping techniques that do not differentiate different alleles. In the method, unphased genotypes at a plurality of nucleotide variant markers of a particular gene in a diploid subject are compared with a canonical haplotype collection of the gene for a heterogeneous subject population. If the unphased genotypes cannot be reduced to a pair of canonical haplotypes within the canonical haplotype collection, it would indicate an increased likelihood that an allele of the gene in the diploid subject harbors a genomic rearrangement.

Method of identifying genomic rearrangements

A method for normalizing the intensity of G bands in sequencing methods which utilize dITP is presented. The use of dITP normally results in decreased intensities of G bands which occur after A bands, i.e., in the sequence AG. It has been discovered that the use of ddITP in place of ddGTP or in conjunction with ddGTP helps to normalize the intensity of the G bands following A bands. This aids in preventing errors in reading sequencing chromatograms and allows for extended reads of sequencing chromatograms as compared to methods which utilize dITP without the use of ddITP.

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Salt Lake City, UT, United States of America

Dmitry Pruss