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1. 发明申请

US20220068437A1 BASE MUTATION DETECTION METHOD AND APPARATUS BASED ON SEQUENCING DATA, AND STORAGE MEDIUM 有权
公开(公告)号：US20220068437A1
公开(公告)日：2022-03-03
申请号：US17522920
申请日：2021-11-10
申请人： BGI GENOMICS CO., LTD.
发明人： Siyang LIU , Shujia HUANG , Xin JIN
IPC分类号： G16B40/00 , G16B20/20 , G06N7/00
摘要： Provided is a base mutation detection method, which includes: determining an initial frequency of sequencing data of samples being a specific base at an interested locus; calculating, based on the initial frequency, an expected value of each sample being the specific base at the interested locus; updating the initial frequency of the sequencing data of the samples being the specific base at the interested locus; further calculating the expected value of each sample being the specific base at the interested locus, further updating the initial frequency of the sequencing data of the samples being the specific base at the interested locus, and repeating the foregoing iteration until the expected value of each sample being the specific base at the interested locus converges; and determining, based on each converging expected value, a base mutation type and a mutation confidence at the interested locus of each sample.

2. 发明申请

US20210024933A1 Splint nucleic acid molecule for cyclizing single-stranded nucleic acid molecule and use thereof 有权
公开(公告)号：US20210024933A1
公开(公告)日：2021-01-28
申请号：US17043447
申请日：2018-04-28
申请人： BGI GENOMICS CO., LTD.
发明人： Chong Tang , Juan Wang , Yiqin Tong , Linfeng Yang , Qiang Gao
IPC分类号： C12N15/113 , C12Q1/6851
摘要： Provided in the present invention are a splint nucleic acid molecule for cyclizing a single-stranded nucleic acid molecule and an application therefor. The splint nucleic acid. molecule is composed of a 5′ terminal fragment and a 3′ terminal fragment, the 5′ terminal fragment being adapted to forming a first complementary region with a 5′ terminal of the single-stranded nucleic acid molecule, and the 3′ terminal fragment being suited to forming a second complementary region with a 3′ terminal of the single-stranded nucleic acid molecule, the length of the first complementary region and the second complementary region being different.

3. 发明授权

US11004538B2 Method and device for detecting chromosomal structural abnormalities 有权
公开(公告)号：US11004538B2
公开(公告)日：2021-05-11
申请号：US14890989
申请日：2013-05-15
申请人： BGI GENOMICS CO., LTD.
发明人： Chuanchun Yang
IPC分类号： G16B30/00 , G16B40/00 , C12Q1/6869
摘要： A method and a device for detecting chromosomal structural abnormalities are provided. The method includes acquiring a whole genome sequencing result of a target individual, that is, multiple pairs of Reads located at two ends of chromosome fragments are determined; aligning the sequencing result with a reference sequence to obtain an abnormal match set, which includes Read pairs that have two Read sequences matched respectively to different chromosomes of the reference sequence; clustering the Read sequences in the abnormal match set based on the positions matched thereto; and filtering the resultant clusters by using, for example, preset requirements associated with compactness and others, and obtaining the filtered result, clusters, for determining the occurrence of translocation-type chromosomal structural abnormity.

4. 发明申请

US20180082012A1 Method and device for determining fraction of cell-free nucleic acids in biological sample and use thereof 审中-公开
$Method and device for determining fraction of cell-free nucleic acids in biological sample and use thereof$
公开(公告)号：US20180082012A1
公开(公告)日：2018-03-22
申请号：US15329148
申请日：2015-07-24
申请人： BGI GENOMICS CO., LTD.
发明人： Fuman Jiang , Yuying Yuan , Wei Wang , Ye Yin
IPC分类号： G06F19/16 , G06F19/22 , G06F19/18 , C12Q1/68
摘要： Provided in the present disclosure are a method and a device for determining a fraction of cell free nucleic acids in a biological sample and use thereof, wherein the method comprises: (1) sequencing nucleic acids of a biological sample having free nucleic acids, in order to obtain sequencing results for a plurality of sequencing data; (2) based on the sequencing results, determining the number of nucleic acid molecules with a length falling within a preset range in the sample; and (3) based on the number of nucleic acid molecules with a length falling within the preset range, determining the ratio of free nucleic acids in the biological sample.

5. 发明申请

US20160085911A1 METHOD AND DEVICE FOR DETECTING CHROMOSOMAL STRUCTURAL ABNORMALITIES 审中-公开
标题翻译：用于检测染色体结构异常的方法和装置
公开(公告)号：US20160085911A1
公开(公告)日：2016-03-24
申请号：US14890989
申请日：2013-05-15
申请人： BGI GENOMICS CO., LTD.
发明人： Chuanchun YANG
IPC分类号： G06F19/22 , G06F19/24
CPC分类号： G16B30/00 , C12Q1/6869 , G16B40/00 , C12Q2537/165
摘要： A method and a device for detecting chromosomal structural abnormalities are provided. The method includes acquiring a whole genome sequencing result of a target individual, that is, multiple pairs of Reads located at two ends of chromosome fragments are determined; aligning the sequencing result with a reference sequence to obtain an abnormal match set, which includes Read pairs that have two Read sequences matched respectively to different chromosomes of the reference sequence; clustering the Read sequences in the abnormal match set based on the positions matched thereto; and filtering the resultant clusters by using, for example, preset requirements associated with compactness and others, and obtaining the filtered result, clusters, for determining the occurrence of translocation-type chromosomal structural abnormity.
摘要翻译：提供了一种用于检测染色体结构异常的方法和装置。该方法包括获取目标个体的全基因组测序结果，即确定位于染色体片段两端的多对Reads; 将测序结果与参考序列对齐以获得异常匹配集合，其包括具有分别匹配参考序列的不同染色体的两个读取序列的读取对; 基于与其匹配的位置对异常匹配集合中的Read序列进行聚类; 并且通过使用例如与紧密度等相关联的预设要求以及获得用于确定易位型染色体结构异常的发生的滤波结果的簇来过滤所得到的簇。

6. 发明申请

US20230115196A1 METHOD FOR DETERMINING PREGNANCY STATUS OF PREGNANT WOMAN 有权
公开(公告)号：US20230115196A1
公开(公告)日：2023-04-13
申请号：US18061264
申请日：2022-12-02
申请人： BGI GENOMICS CO., LTD.
发明人： Ruoyan CHEN , Siyang LIU , Xin JIN
IPC分类号： G06N5/022 , G16B20/00
摘要： Provided is a method for determining a pregnancy status of a pregnant woman, including: (1) constructing a training set and a selective verification set, each of the training set and the selective verification set being composed of pregnant woman samples each having a known pregnancy status; (2) determining predetermined parameters of each pregnant woman sample in the training set, the predetermined parameters including a concentration of fetal cell-free nucleic acids in peripheral blood and a gestational age in week at which sampling for the peripheral blood is conducted; (3) constructing a prediction model based on the known pregnancy status and the predetermined parameters; (4) determining predetermined parameters of the pregnant woman; and (5) determining the pregnancy status of the pregnant woman based on the predetermined parameters and the constructed prediction model.

7. 发明授权

US11371074B2 Method and system for determining copy number variation 有权
公开(公告)号：US11371074B2
公开(公告)日：2022-06-28
申请号：US15881902
申请日：2018-01-29
申请人： BGI GENOMICS CO., LTD.
发明人： Xuchao Li , Shengpei Chen , Fang Chen , Weiwei Xie , Jian Wang , Jun Wang , Huanming Yang , Xiuqing Zhang
IPC分类号： C12Q1/68 , G16B30/00 , G16C99/00 , C12Q1/6869 , G16B30/10 , G16B15/00
摘要： Disclosed are a method and a system for determining genome copy number variation, which relates to the technical field of bioinformatics. The method and the system have clinical feasibility, and can precisely detect a micro-deletion/micro-duplication area of 0.5 M under the situation of using data of about 50 M.

8. 发明专利

HRP20220045T1 POSTUPAK ZA ODREĐIVANJE FRAKCIJE SLOBODNIH FETALNIH NUKLEINSKIH KISELINA U UZORKU PERIFERNE KRVI TRUDNICE I NJIHOVA UPORABA 未知
公开(公告)号：HRP20220045T1
公开(公告)日：2022-04-15
申请号：HRP20220045
申请日：2015-07-24
申请人： BGI GENOMICS CO LTD
发明人： JIANG FUMAN , YUAN YUYING , WANG WEI , YIN YE
IPC分类号： C12Q1/68

9. 发明专利

AU2020441876A1 Human phenotypic standard term determination method, and related device 未知
公开(公告)号：AU2020441876A1
公开(公告)日：2022-01-06
申请号：AU2020441876
申请日：2020-11-06
申请人： BGI GENOMICS CO LTD , BGI HEALTH HK COMPANY LTD
发明人： ZHOU JIAN , KONG LINGXIANG , YANG JIAOBO , HE ZENGQUAN , WANG JIN'AN
IPC分类号： G06F40/117
摘要： A human phenotypic standard term determination method, and a related device. The method comprises: obtaining symptom description information (S100); performing query matching on word segmentation groups corresponding to various human phenotypic standard terms in a pre-set human phenotypic standard term library and the symptom description information, and determining the degree of matching between each human phenotypic standard term and the symptom description information (S200), wherein the word segmentation group comprises at least one segmented word list obtained by means of performing, according to a pre-set word segmentation rule, word segmentation on human phenotypic standard terms corresponding to the word segmentation group, and the segmented word list comprises at least one segmented word; and determining a human phenotypic standard term, the degree of matching of which meets a pre-set matching success condition (S300). According to the method, query matching is performed on symptom description information and word segmentation groups corresponding to various human phenotypic standard terms, and a human phenotypic standard term conforming to the symptom description information is screened out, thereby facilitating research and communication of the symptom description information by a technician, and also facilitating data analysis and mining of symptoms on the symptom description information.

10. 发明专利

ES2685893T3 Método para determinar la composición de ácidos nucleicos de una mezcla de ácidos nucleicos 未知
公开(公告)号：ES2685893T3
公开(公告)日：2018-10-15
申请号：ES13890841
申请日：2013-07-30
申请人： BGI GENOMICS CO LTD
发明人： PAN XIAOYU , GUO JING , JIANG HUI , CHEN FANG , CHEN SHENGPEI , ZHU SHIDA , FAN FAN , ZHU JIALOU
IPC分类号： C12Q1/6827 , C12Q1/6851 , C12Q1/6876 , C12Q1/6881 , C12Q1/6886
摘要： Método para determinar la composición de ácidos nucleicos en una mezcla de ácidos nucleicos totales que comprende un primer ácido nucleico y un segundo ácido nucleico, en el que dicho primer ácido nucleico y dicho segundo ácido nucleico se derivan de fuentes diferentes, comprendiendo dicho método: 1) tratar dicha mezcla de ácidos nucleicos totales con un bisulfito, para convertir citosina no metilada en dicha mezcla de ácidos nucleicos totales en uracilo, y obtener una mezcla de ácidos nucleicos totales convertidos; 2) someter dicha mezcla de ácidos nucleicos totales convertidos a PCR cuantitativa fluorescente multiplexada usando un primer conjunto de cebadores de amplificación y un segundo conjunto de cebadores de amplificación, para capturar y amplificar un fragmento de ácido nucleico predeterminado, y obtener una razón R de un producto de amplificación metilado con respecto a un producto de amplificación no metilado de dicho fragmento de ácido nucleico predeterminado, en el que dicho primer ácido nucleico y dicho segundo ácido nucleico contienen ambos dicho fragmento de ácido nucleico predeterminado, y el fragmento de ácido nucleico predeterminado en dicho primer ácido nucleico difiere del fragmento de ácido nucleico predeterminado en dicho segundo ácido nucleico en cuanto al nivel de metilación; dicho primer conjunto de cebadores de amplificación reconoce específicamente el fragmento de ácido nucleico predeterminado convertido, y dicho segundo conjunto de cebadores de amplificación reconoce específicamente el fragmento de ácido nucleico predeterminado no convertido; y se predeterminan una proporción de metilación M1 de dicho fragmento de ácido nucleico predeterminado en el primer ácido nucleico y una proporción de metilación M2 de dicho fragmento de ácido nucleico predeterminado en el segundo ácido nucleico; y 3) basándose en la razón R del producto de amplificación metilado con respecto al producto de amplificación no metilado de dicho fragmento de ácido nucleico predeterminado, la proporción de metilación M1 de dicho fragmento de ácido nucleico predeterminado en el primer ácido nucleico y la proporción de metilación M2 de dicho fragmento de ácido nucleico predeterminado en el segundo ácido nucleico, determinar la composición de ácidos nucleicos en la mezcla de ácidos nucleicos totales; en el que en la etapa 3), el contenido ε del primer ácido nucleico en la mezcla de ácidos nucleicos totales se determina según la fórmula ε>=(M2+RM2-R)/[R(M2-M1)-(M1-M2)].

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