公开(公告)号：US20250061970A1

公开(公告)日：2025-02-20

申请号：US18816167

申请日：2024-08-27

Applicant: Life Technologies Corporation

Inventor： Sowmi Utiramerur ,  Dumitru Brinza ,  Marcin Sikora ,  Christian Koller ,  Earl Hubbell ,  Chantal Roth ,  Rajesh Gottimukkala

IPC: G16B30/10 ,  G16B20/20 ,  G16B30/00

Abstract: Systems and method for determining variants can receive mapped reads and determine a distribution of matched-filter residuals distribution from a plurality of reads at a homopolymer region. The distribution of matched-filter residuals can be fit to uni-modal and bi-modal models. Based on the model that best fits the distribution of matched-filter residuals, the heterozygosity of the sample and the absence or presence of an insertion/deletion in the homopolymer can be determined.

公开(公告)号：US20230223103A1

公开(公告)日：2023-07-13

申请号：US18090392

申请日：2022-12-28

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Chantal Roth

IPC: G16B20/00 ,  G16B40/20

CPC classification number: G16B20/00 ,  G16B40/20

Abstract: Methods and systems for improving computer efficiency by intelligently selecting subsets of possible short tandem repeat (STR) allele combinations for further deconvolution analysis are disclosed. In one embodiment, at each locus, for a currently analyzed contribution ratio scenario of a plurality of contribution ratio scenarios, a processor computes an adjusted evidence profile. For a first, or next, unidentified contributor having a pre-determined highest remaining contribution ratio in the currently analyzed contribution ratio scenario for the plurality of contributors, a processor computes a first range of expected peak heights using at least the pre-determined highest remaining contribution ratio, a selected degradation value, and a peak height ratio distribution. Also disclosed are methods and systems for intelligently estimating the number of contributors to a biological sample.

公开(公告)号：US20210217491A1

公开(公告)日：2021-07-15

申请号：US17248083

申请日：2021-01-08

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Sowmi Utiramerur ,  Dumitru Brinza ,  Marcin Sikora ,  Christian Koller ,  Earl Hubbell ,  Chantal Roth ,  Rajesh Gottimukkala

IPC: G16B30/00 ,  G16B20/20

Abstract: Systems and method for determining variants can receive mapped reads and determine a distribution of matched-filter residuals distribution from a plurality of reads at a homopolymer region. The distribution of matched-filter residuals can be fit to uni-modal and bi-modal models. Based on the model that best fits the distribution of matched-filter residuals, the heterozygosity of the sample and the absence or presence of an insertion/deletion in the homopolymer can be determined.

公开(公告)号：US20180068061A1

公开(公告)日：2018-03-08

申请号：US15672865

申请日：2017-08-09

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Sowmi Utiramerur ,  Dumitru Brinza ,  Marcin Sikora ,  Christian Koller ,  Earl Hubbell ,  Chantal Roth ,  Rajesh Gottimukkala

IPC: G06F19/22

CPC classification number: G16B30/00

Abstract: Systems and method for determining variants can receive mapped reads and determine a distribution of matched-filter residuals distribution from a plurality of reads at a homopolymer region. The distribution of matched-filter residuals can be fit to uni-modal and bi-modal models. Based on the model that best fits the distribution of matched-filter residuals, the heterozygosity of the sample and the absence or presence of an insertion/deletion in the homopolymer can be determined.