Myriad Women's Health, Inc.

Counsyl, Inc.

A Scott Patterson

Clement S Chu

Eric Andrew Evans

Imran Saeedul Haque

Abhik Shah

Balaji Srinivasan

Subramaniam Srinivasan

Hunter Richards

The present disclosure relates to processes for determining the number of nucleic acid repeats in a DNA fragment comprising a nucleic acid repeat region. One example method may include receiving DNA size and abundance data generated by resolving DNA amplification products. A set of low-pass data may be generated by applying a low-pass filter to the DNA size and abundance data and a set of band-pass data may be generated by applying a band-pass filter to the DNA size and abundance data. A peak of the DNA size and abundance data representative of a number of nucleic acid repeats in the DNA may be identified based on peaks identified from the low-pass data and the band-pass data.

Automated nucleic acid repeat count calling methods

The invention provides methods, apparatuses, and compositions for high-throughput amplification sequencing of specific target sequences in one or more samples. In some aspects, barcode-tagged polynucleotides are sequenced simultaneously and sample sources are identified on the basis of barcode sequences. In some aspects, sequencing data are used to determine one or more genotypes at one or more loci comprising a causal genetic variant. In some aspects, systems and methods of detecting genetic variation are provided.

System and methods for detecting genetic variation

Growing community of inventors

South San Francisco, CA, United States of America

A Scott Patterson