Myriad Genetics, Inc.

Thomas M Scholl

Dmitry Pruss

Walter W Noll

Amie Deffenbaugh

Kristilyn Eliason

Brian E Ward

Thaddeus S Judkins

Lynn Burbidge

Brant C Hendrickson

Arnold R Oliphant

Benjamin Ward

Michael T Pyne

Genetic variants in the BRCA2 gene are disclosed which are useful as diagnosis biomarkers.

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BRCA2 mutations and use thereof

Variants in MYH gene are disclosed which can result in abnormal synthesis of MYH proteins and alteration of MYH activities. The invention provides methods for detecting the newly discovered genetic variants. Use of MYH genetic variants as biomarkers in diagnosing cancer and detecting a predisposition to cancer are also disclosed herein.

MYH gene variants and use thereof

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

The present invention relates to a composition and to a method for extracting DNA. More specifically, the present invention relates to a composition and to a method to extract DNA from dried biological samples on solid substrates, including but not limited to, buccal smears, semen and especially blood. The method can be conducted in a single-tube. The DNA extracted in accordance with the present invention can be used for DNA amplification reactions, DNA sequencing, DNA restriction analysis and DNA hyridization.

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W. Borough, MA, United States of America

Thomas M Scholl