公开(公告)号：US20140052381A1

公开(公告)日：2014-02-20

申请号：US13966378

申请日：2013-08-14

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.

Abstract translation: 用于确定变体的系统和方法可以接收映射读取并且从均聚物区域的多次读取确定匹配滤波器残差分布的分布。 匹配滤波器残差的分布可以适用于单模和双模态模型。 基于最适合匹配滤波器残差分布的模型，可以确定样品的杂合度和均聚物中插入/缺失的不存在或不存在。

公开(公告)号：US20130288904A1

公开(公告)日：2013-10-31

申请号：US13859360

申请日：2013-04-09

Applicant: Life Technologies Corporation

Inventor： Earl HUBBELL ,  Jonathan SCHULTZ

IPC: C12Q1/68

CPC classification number: C12Q1/6869 ,  C12Q1/6874 ,  C12Q2533/101 ,  C12Q2565/301 ,  C12Q2565/607

Abstract: A method for nucleic acid sequencing includes: disposing a plurality of template polynucleotide strands, sequencing primers, and polymerases in a plurality of defined spaces of a sensor array; exposing template polynucleotide strands to a series of flows of nucleotide species, the series comprising a sequence of random flows; and obtaining, for each of the series of flows of nucleotide species, a signal indicative of how many nucleotide incorporations occurred for that particular flow to determine a predicted sequence of nucleotides corresponding to the template polynucleotide strands.

Abstract translation: 用于核酸测序的方法包括：在传感器阵列的多个限定空间中设置多个模板多核苷酸链，测序引物和聚合酶; 将模板多核苷酸链暴露于一系列核苷酸物种流，该序列包含一系列随机流; 并且对于核苷酸物种的一系列流程中的每一个获得指示针对该特定流出现多少个核苷酸掺入以确定对应于模板多核苷酸链的核苷酸的预测序列的信号。