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    ASSOCIATION MARKERS FOR BETA THALASSEMIA TRAIT
    1.
    发明申请
    ASSOCIATION MARKERS FOR BETA THALASSEMIA TRAIT 审中-公开
    BETA THALASSEMIA TRAIT的协会标志

    公开(公告)号：US20140148344A1

    公开(公告)日：2014-05-29

    申请号：US14007673

    申请日：2012-03-29

    申请人： Sina Vivekanandan Thrissur Kadavil ,  Sunil Kumar ,  Randeep Singh ,  Nevenka Dimitrova

    发明人： Sina Vivekanandan Thrissur Kadavil ,  Sunil Kumar ,  Randeep Singh ,  Nevenka Dimitrova

    IPC分类号： C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156

    摘要： The present invention relates to isolated nucleic acid molecules of SEQ ID NO: 1 to SEQ ID NO: 14 which show a single polymorphic change at position 501, where the wildtype nucleotide is replaced by an indicator nucleotide, respectively. The present invention further relates to the mentioned nucleic acid molecules wherein a panel of 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13 or 14 of the polymorphic, changed sequences comprising the mentioned indicator nucleotides constitutes a marker for beta thalassemia, in particular of beta thalassemia minor. Further envisaged are specific panels comprising SEQ ID NO: 1; or SEQ ID NO 1 and 2; or SEQ ID NO: 1, 2 and 3, or SEQ ID NO: 1, 2, 3 and 4; or SEQ ID NO: 1 to 5; or SEQ ID NO: 1 to 6; or SEQ ID NO: 1 to 7; or SEQ ID NO: 1 to 14; or SEQ ID NO: 8 and 14; or SEQ ID NO: 8 and 9; or SEQ ID NO: 2, 4 and 13. The present invention further relates to a method of detecting or diagnosing beta thalassemia, preferably of beta thalassemia minor, in a subject, comprising the steps of: (a) isolating a nucleic acid from a subject's sample, (b) determining the nucleotide sequence and/or molecular structure present at one or more of the mentioned polymorphic sites, wherein the presence of an indicator nucleotide indicative of the presence of beta thalassemia. Also envisaged are a corresponding composition for detecting or diagnosing beta thalassemia, the use of the mentioned nucleic acid molecules for detecting or diagnosing beta thalassemia or for screening a population for the presence of beta thalassemia, as well as a corresponding kit. The methods, compositions, uses and kits of the invention also relate to the assessment of the risk of developing beta thalassemia in a subject and/or in a subject's progeny.

    摘要翻译： 本发明涉及SEQ ID NO：1至SEQ ID NO：14的分离的核酸分子，其分别在位置501显示单个多态性变化，其中野生型核苷酸被指示剂核苷酸替代。 本发明还涉及所述核酸分子，其中所述多态性改变的序列的1,2,3,4,5,6,7,8,9,10,11,12,13或14的片段包含 提及的指示剂核苷酸构成β地中海贫血的标志物，特别是β地中海贫血的标记物。 进一步设想的是包含SEQ ID NO：1的特定面板; 或SEQ ID NO 1和2; 或SEQ ID NO：1,2和3，或SEQ ID NO：1,2,3和4; 或SEQ ID NO：1至5; 或SEQ ID NO：1至6; 或SEQ ID NO：1至7; 或SEQ ID NO：1至14; 或SEQ ID NO：8和14; 或SEQ ID NO：8和9; 或SEQ ID NO：2,4和13.本发明还涉及检测或诊断受试者中β地中海贫血，优选地中海贫血地区贫血的方法，包括以下步骤：（a）从核酸 （b）确定存在于一个或多个所述多态性位点处的核苷酸序列和/或分子结构，其中存在指示β-地中海贫血存在的指示剂核苷酸。 还设想了用于检测或诊断β地中海贫血的相应组合物，所述核酸分子用于检测或诊断β地中海贫血或用于筛选群体以获得β地中海贫血以及相应的试剂盒。 本发明的方法，组合物，用途和试剂盒还涉及在受试者和/或受试者的后代中发展β地中海贫血的风险的评估。

    Method for Assembly of Nucleic Acid Sequence Data
    2.
    发明申请
    Method for Assembly of Nucleic Acid Sequence Data 审中-公开
    核酸序列数据的装配方法

    公开(公告)号：US20140249764A1

    公开(公告)日：2014-09-04

    申请号：US14124261

    申请日：2012-05-24

    申请人： Sunil Kumar ,  Randeep Singh ,  Nevenka Dimitrova

    发明人： Sunil Kumar ,  Randeep Singh ,  Nevenka Dimitrova

    IPC分类号： G06F19/22

    CPC分类号： G16B30/00

    摘要： The present invention relates to a method for assembly of nucleic acid sequence data comprising nucleic acid fragment reads into (a) contiguous nucleotide sequence segment(s), comprising the steps of: (a) obtaining a plurality of nucleic acid sequence data from a plurality of nucleic acid fragment reads; (b) aligning said plurality of nucleic acid sequence data to a reference sequence; (c) detecting one or more gaps or regions of non-assembly, or non-matching with the reference sequence in the alignment output of step (b); (d) performing de novo sequence assembly of nucleic acid sequence data mapping to said gaps or regions of non-assembly; and (e) combining the alignment output of step (b) and the assembly output of step (d) in order to obtain (a) contiguous nucleotide sequence segment(s). In addition, a corresponding program element or computer program for assembly of nucleic acid sequence data and a sequence assembly system for transforming nucleic acid sequence data comprising nucleic acid fragment reads into (a) contiguous nucleotide sequence segment(s) is provided.

    摘要翻译： 本发明涉及将包含核酸片段读取的核酸序列数据装配到（a）连续核苷酸序列片段中的方法，包括以下步骤：（a）从多个核酸序列获得多个核酸序列数据 的核酸片段读取; （b）将所述多个核酸序列数据与参考序列对准; （c）检测与步骤（b）的对准输出中的参考序列的非组装或不匹配的一个或多个间隙或区域; （d）执行核酸序列数据的从头序列组装，其映射到所述非组装的间隙或区域; 和（e）组合步骤（b）的比对输出和步骤（d）的组合输出，以获得（a）连续核苷酸序列片段。 此外，提供了用于装配核酸序列数据的相应程序元件或计算机程序和用于将包含核酸片段的核酸序列数据转换成（a）连续核苷酸序列片段的序列组装系统。

    METHOD FOR PROCESSING GENOMIC DATA
    3.
    发明申请
    METHOD FOR PROCESSING GENOMIC DATA 审中-公开
    处理基因数据的方法

    公开(公告)号：US20140229495A1

    公开(公告)日：2014-08-14

    申请号：US13979908

    申请日：2012-01-19

    申请人： Vishnu Vardhan Makkapati ,  Nevenka Dimitrova ,  Randeep Singh ,  Sunil Kumar

    发明人： Vishnu Vardhan Makkapati ,  Nevenka Dimitrova ,  Randeep Singh ,  Sunil Kumar

    IPC分类号： G06F19/18

    CPC分类号： G16B20/00 ,  G16B30/00

    摘要： The present invention relates to a method for processing a subject's genomic data comprising (a) obtaining a subject's genomic sequence; (b) reducing the complexity and/or amount of the genomic sequence information; and (c) storing the genomic sequence information of step (b) in a rapidly retrievable form. The present invention further relates to a method wherein the step of reducing the complexity and/or amount of the genomic sequence information is carried out by cropping said genomic sequence information except for signature data pertaining to a disease or disorder, or by aligning a subject's genomic sequence with a reference sequence comprising signature data pertaining to a disease or disorder. Furthermore, the invention relates to a method wherein the use of a subject's functional genetic information, in particular gene expression data is included, as well as to a method, wherein the information is encoded in matrices and decoded and represented based on Markov chain processes. The obtained information can also be used for diagnosing, detecting, monitoring or prognosticating a disease and/or for the preparation of a subject's molecular history. In addition, a corresponding clinical decision support and storage system, preferably in the form of an electronic picture/data archiving and communication system, is provided.

    摘要翻译： 本发明涉及一种用于处理受试者的基因组数据的方法，包括（a）获得受试者的基因组序列; （b）降低基因组序列信息的复杂性和/或量; 和（c）以快速可检索的形式存储步骤（b）的基因组序列信息。 本发明还涉及一种方法，其中降低基因组序列信息的复杂性和/或量的步骤是通过除除与疾病或病症有关的签名数据以外的所述基因组序列信息进行的，或者通过使受试者的基因组 序列具有包括与疾病或病症有关的签名数据的参考序列。 此外，本发明涉及一种方法，其中包括使用受试者的功能性遗传信息，特别是基因表达数据，以及一种方法，其中所述信息被编码在矩阵中并且基于马尔科夫链过程进行解码和表示。 获得的信息还可以用于诊断，检测，监测或预测疾病和/或用于制备受试者的分子病史。 此外，提供了优选地以电子图片/数据归档和通信系统的形式的相应的临床决策支持和存储系统。

    GENOMIC/PROTEOMIC SEQUENCE REPRESENTATION, VISUALIZATION, COMPARISON AND REPORTING USING BIOINFORMATICS CHARACTER SET AND MAPPED BIOINFORMATICS FONT
    4.
    发明申请
    GENOMIC/PROTEOMIC SEQUENCE REPRESENTATION, VISUALIZATION, COMPARISON AND REPORTING USING BIOINFORMATICS CHARACTER SET AND MAPPED BIOINFORMATICS FONT 审中-公开
    基因/保护性序列表示，可视化，比较和报告使用生物特征字符集和映射生物素FONT

    公开(公告)号：US20140229114A1

    公开(公告)日：2014-08-14

    申请号：US14131038

    申请日：2012-07-04

    申请人： Randeep Singh ,  Sunil Kumar ,  Biswaroop Chakrabarti

    发明人： Randeep Singh ,  Sunil Kumar ,  Biswaroop Chakrabarti

    IPC分类号： G06F19/26 ,  G06F19/22

    摘要： Genomic or proteomic data are encoded as a genomic or proteomic character string comprising characters of a bioinformatics character set (20). Each base or peptide of the genomic or proteomic data is represented by a single character of the bioinformatics character set, and each character of the bioinformatics character set encodes (I) a base or peptide and (II) at least one annotated datum value associated with the base or peptide. The genomic or proteomic data are displayed by displaying the genomic or proteomic character string using a bioinformatics font (40) mapped to the bioinformatics character set. At least one string function may be performed on the genomic or proteomic character string to generate an updated genomic or proteomic character string in which at least one base or peptide is represented by a single character encoding at least one additional or modified annotated datum generated by the performed string manipulation.

    摘要翻译： 基因组或蛋白质组学数据被编码为包含生物信息学角色集（20）的字符的基因组或蛋白质组学字符串。 基因组或蛋白质组学数据的每个碱基或肽由生物信息学特征集的单个特征表示，并且生物信息学特征集的每个特征编码（I）碱基或肽，和（II）至少一个注释基准值 碱或肽。 通过使用映射到生物信息学字符集的生物信息学字体（40）显示基因组或蛋白质组学字符串来显示基因组或蛋白质组学数据。 可以对基因组或蛋白质组学字符串执行至少一个字符串函数以产生更新的基因组或蛋白质组学字符串，其中至少一个碱基或肽由编码至少一个附加或修饰的注释基准的单个字符表示，所述单个字符由 执行字符串操作。

    Digital audio processing in a dual-mode telephone
    8.
    发明授权
    Digital audio processing in a dual-mode telephone 失效
    双模电话中的数字音频处理

    公开(公告)号：US6006108A

    公开(公告)日：1999-12-21

    申请号：US593303

    申请日：1996-01-31

    申请人： Peter J. Black ,  Randeep Singh ,  Way-Shing Lee ,  Henry Chang

    发明人： Peter J. Black ,  Randeep Singh ,  Way-Shing Lee ,  Henry Chang

    IPC分类号： H04B1/38 ,  H04B1/40 ,  H04W4/18 ,  H04W28/06 ,  H04W88/06 ,  H04W88/08 ,  H04Q7/30

    CPC分类号： H04B1/406 ,  H04W28/06 ,  H04W4/18 ,  H04W88/06 ,  H04W88/08

    摘要： A novel and improved digital FM audio processor for use in a dual-mode communication system selectively operative in either FM or code division multiple access (CDMA) modes. Analog voice or voice-band data is input to a speech encoder/decoder (CODEC) which converts the analog signal to a digital signal. The digital FM signal is read from the CODEC, filtered, compressed, up-sampled and combined with a transponded SAT signal and then modulated for RF transmission. On the receive side, the FM analog signal is received, demodulated, down-sampled, expanded, and filtered before being converted to the proper format (.mu.-law, a-law, or linear) for the speech CODEC. The CODEC then converts the digital FM audio signal into an analog waveform for conversion to sound. By performing the FM audio processing digitally, the same digital signal processing (DSP) firmware may integrated on the same application specific integrated circuit (ASIC) which is capable of performing audio processing of both FM and CDMA audio signals.

    摘要翻译： 一种新颖和改进的数字FM音频处理器，用于选择性地以FM或码分多址（CDMA）模式操作的双模式通信系统。 模拟语音或语音频带数据被输入到将模拟信号转换成数字信号的语音编码器/解码器（CODEC）。 数字FM信号从CODEC中读取，经过滤波，压缩，上采样并与转发的SAT信号组合，然后调制为RF传输。 在接收端，FM模拟信号被接收，解调，下采样，扩展和滤波，然后转换为语音CODEC的正确格式（mu-aaw，a-law或linear）。 CODEC然后将数字FM音频信号转换为模拟波形，以转换为声音。 通过数字地执行FM音频处理，相同的数字信号处理（DSP）固件可以集成在能够执行FM和CDMA音频信号的音频处理的相同专用集成电路（ASIC）上。

    Digital FM audio processing in a dual-mode communication system
    10.
    发明授权
    Digital FM audio processing in a dual-mode communication system 失效
    数字FM音频处理在双模式通信系统中

    公开(公告)号：US06246885B1

    公开(公告)日：2001-06-12

    申请号：US09095859

    申请日：1998-06-11

    申请人： Peter J. Black ,  Randeep Singh ,  Way-Shing Lee ,  Henry Chang

    发明人： Peter J. Black ,  Randeep Singh ,  Way-Shing Lee ,  Henry Chang

    IPC分类号： H04B138

    CPC分类号： H04B1/406 ,  H04W4/18 ,  H04W28/06 ,  H04W88/06 ,  H04W88/08

    摘要： A novel and improved digital FM audio processor for use in a dual-mode communication system selectively operative in either FM or code division multiple access (CDMA) modes. Analog voice or voice-band data is input to a speech encoder/decoder (CODEC) which converts the analog signal to a digital signal. The digital FM signal is read from the CODEC, filtered, compressed, up-sampled and combined with a transponded SAT signal and then modulated for RF transmission. On the receive side, the FM analog signal is received, demodulated, down-sampled, expanded, and filtered before being converted to the proper format (&mgr;-law, a-law, or linear) for the speech CODEC. The CODEC then converts the digital FM audio signal into an analog waveform for conversion to sound. By performing the FM audio processing digitally, the same digital signal processing (DSP) firmware may integrated on the same application specific integrated circuit (ASIC) which is capable of performing audio processing of both FM and CDMA audio signals.

    摘要翻译： 一种新颖和改进的数字FM音频处理器，用于选择性地以FM或码分多址（CDMA）模式操作的双模式通信系统。 模拟语音或语音频带数据被输入到将模拟信号转换成数字信号的语音编码器/解码器（CODEC）。 数字FM信号从CODEC中读取，经过滤波，压缩，上采样并与转发的SAT信号组合，然后调制为RF传输。 在接收端，FM模拟信号被接收，解调，下采样，扩展和滤波，然后转换为语音CODEC的正确格式（mu律，a律或线性）。 CODEC然后将数字FM音频信号转换为模拟波形，以转换为声音。 通过数字地执行FM音频处理，相同的数字信号处理（DSP）固件可以集成在能够执行FM和CDMA音频信号的音频处理的相同专用集成电路（ASIC）上。