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DNA diagnostics based on mass spectrometry

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TLDR
In this article, a mass spectrometer-based process for detecting nucleic acid sequences in a biological sample was proposed, which can be used to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.
Abstract
The invention provides fast and highly accurate mass spectrometer based processes for detecting a particular nucleic acid sequence in a biological sample. Depending on the sequence to be detected, the processes can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.

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Citations
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Patent

Methods and apparatuses for analyzing polynucleotide sequences

TL;DR: In this article, a high speed, high throughput analysis of polynucleotide sequences, and apparatuses with which to carry out the methods are provided in the invention of the algorithm.
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Short cycle methods for sequencing polynucleotides

TL;DR: In this article, a polynucleotide sequence is sequenced by stopping an extension cycle in a sequence by synthesis reaction before the reaction has run to near or full completion, which is called stopping the cycle.
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Dna sequencing by mass spectrometry via exonuclease degradation

TL;DR: In this article, a method for determining the sequence of nucleic acids by cleaving the nucleic acid unilaterally from a first end with an exonuclease activity to sequentially release individual nucleotides is described.
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Microfluidic devices and methods

TL;DR: In this article, the transfer-separation channel terminates in a discharge aperture, and the body of a microanalysis chip comprises a body having at least one transfer separation channel with a channel bottom that has a bottom opening.
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Beads bound to a solid support and to nucleic acids

TL;DR: In this paper, the authors describe novel compositions comprised of at least one bead conjugated to a solid support and further conjugating to at least 1 nucleic acid, and the preferred methods for making the novel compositions are described.
References
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Book

Molecular Cloning: A Laboratory Manual

TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
Journal ArticleDOI

Specific association of human telomerase activity with immortal cells and cancer

TL;DR: A highly sensitive assay for measuring telomerase activity was developed in this paper, which showed that telomerases appear to be stringently repressed in normal human somatic tissues but reactivated in cancer, where immortal cells are likely required to maintain tumor growth.
Patent

Process for amplifying nucleic acid sequences

TL;DR: In this article, a process for amplifying any desired specific nucleic acid sequence contained in a mixture of nucleic acids or mixture thereof is described, which can be repeated as often as desired.
Patent

Process for amplifying, detecting, and/or-cloning nucleic acid sequences

TL;DR: In this paper, the authors proposed a method for synthesizing nucleic acid sequences using primers, which can be repeated stepwise or simultaneously and can be replicated as often as desired.
Journal ArticleDOI

Sequence-selective recognition of DNA by strand displacement with a thymine-substituted polyamide

TL;DR: The results show that the backbone of DNA can be replaced by a polyamide, with the resulting oligomer retaining base-specific hybridization.