公开(公告)号：US20170235874A1

公开(公告)日：2017-08-17

申请号：US15504299

申请日：2015-08-14

Applicant: Life Technologies Corporation

Inventor： Harrison Leong ,  Edgar Schreiber

IPC: G06F19/18 ,  G06F19/24 ,  G01N27/447

CPC classification number: G16B20/00 ,  G16B40/00

Abstract: A computer-implemented method for determining minor variants. The method includes receiving electropherogram sequence data from a test sample, identifying any non-primary peaks in the electropherogram, and characterizing identified non-primary peaks using at least one signal feature. The method may further include analyzing the at least one signal feature across identified non-primary peaks to identify variant candidates, evaluating at least one peak characteristic of each of the identified variant candidates, and classifying variant candidates as bona fide variants based on the evaluation of peak characteristics.

公开(公告)号：US20210147946A1

公开(公告)日：2021-05-20

申请号：US17091092

申请日：2020-11-06

Applicant: Life Technologies Corporation

Inventor： Charles Wendell Higdon, III ,  Harrison Leong ,  Charles Baudo ,  Carole Bornarth ,  Edgar Schreiber

IPC: C12Q1/6886 ,  C12Q1/6844 ,  G16B30/10 ,  G16B40/10

Abstract: Systems, primers, kits, and methods for detecting microsatellite instability in a biological sample are described. Signal data is received from a capillary electrophoresis genetic analysis instrument, wherein the signal data is measured from fluorescence of fragments comprising nucleic acid sequences amplified from the biological sample via polymerase chain reaction (PCR). The nucleic acid sequences correspond to a plurality of different microsatellite loci and are obtained using a plurality of PCR primers configured to flank a plurality of microsatellite loci of a biological sample. When the PCR primers and the biological sample are combined and subjected to PCR amplification, fluorescently labeled DNA fragments are generated comprising the plurality of microsatellite loci. Fluorescent data obtained from the plurality of fluorescently labelled microsatellite loci are used to classify microsatellite instability of the biological sample.

公开(公告)号：US10910086B2

公开(公告)日：2021-02-02

申请号：US15504299

申请日：2015-08-14

Applicant: Life Technologies Corporation

Inventor： Harrison Leong ,  Edgar Schreiber

IPC: G01N33/48 ,  G16B20/00 ,  G16B40/00 ,  G06G7/58

Abstract: A computer-implemented method for determining minor variants. The method includes receiving electropherogram sequence data from a test sample, identifying any non-primary peaks in the electropherogram, and characterizing identified non-primary peaks using at least one signal feature. The method may further include analyzing the at least one signal feature across identified non-primary peaks to identify variant candidates, evaluating at least one peak characteristic of each of the identified variant candidates, and classifying variant candidates as bona fide variants based on the evaluation of peak characteristics.

公开(公告)号：US20170247756A1

公开(公告)日：2017-08-31

申请号：US15515758

申请日：2015-09-28

Applicant: Life Technologies Corporation

Inventor： Edgar Schreiber ,  Kamini Varma ,  Mark Andersen

IPC: C12Q1/68

CPC classification number: C12Q1/6874 ,  C12Q1/6806 ,  C12Q1/6853 ,  C12Q1/6858 ,  C12Q1/6869 ,  C12Q2537/143 ,  C12Q2537/149 ,  C12Q2537/159 ,  C12Q2549/119 ,  C12Q2535/122 ,  C12Q2565/125 ,  C12Q2521/325 ,  C12Q2525/113 ,  C12Q2525/125 ,  C12Q2535/101

Abstract: Methods, compositions and kits are described for resequencing, confirming or verifying Next Generation Sequencing (NGS) results with Sanger Sequencing. These methods are particularly useful for samples having very limited quantities such as formalin-fixed, paraffin-embedded (FFPE), Laser Capture Microdissection (LCM), fine needle biopsies or aspirates.