Patent
Methods and processes for non-invasive assessment of genetic variations
Cosmin Deciu,Zeljko Dzakula +1 more
TLDR
In this paper, methods, processes and apparatuses for non-invasive assessment of genetic variations are described and discussed. But none of them are suitable for noninvasive testing.Abstract:
Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.read more
Citations
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Patent
Intelligent control with hierarchical stacked neural networks
TL;DR: In this paper, a system and method of detecting an aberrant message is provided, based on the ordered set of words and the semantic attributes of the corresponding set of expected words.
Patent
Systems and methods to detect rare mutations and copy number variation
TL;DR: In this paper, the authors present a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides, which includes sample preparation, or the extraction and isolation of cell free POlynucleotide sequences from a bodily fluid; subsequent sequencing of cell-free polynuclotides by techniques known in the art.
Patent
Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
TL;DR: In this article, the authors proposed a method comprising whole genome sequencing for identifying polymorphisms in samples comprising mixtures of genomes, and for determining and/or monitoring the presence or absence of disorders associated with the identified polymorphisms.
Patent
Optimization of multigene analysis of tumor samples
Sean R. Downing,Mirna Jarosz,Doron Lipson,Geoffrey Alan Otto,Alexander N. Parker,Mikhail G. Shapiro,Philip James Stephens,Roman Yelensky +7 more
TL;DR: In this paper, a method of analyzing a tumor sample includes acquiring a library comprising a plurality of tumor members from the sample, contacting the library with a bait set to isolate selected members, acquiring a read for a sub-genomic interval from a selected member, aligning said read and assigning a nucleotide value (e.g., calling a mutation) from said read for preselected nucleotide position.
Patent
Ligation-based detection of genetic variants
TL;DR: In this article, a method for detecting genetic variants in a sample, including copy number variation and single nucleotide polymorphisms, is presented. But the method is not suitable for the detection of genetic variants with multiple nucleotides.
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
Basic Local Alignment Search Tool
TL;DR: A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score.
Journal ArticleDOI
Gapped BLAST and PSI-BLAST: a new generation of protein database search programs.
Stephen F. Altschul,Thomas L. Madden,Alejandro A. Schäffer,Jinghui Zhang,Zheng Zhang,Webb Miller,David J. Lipman +6 more
TL;DR: A new criterion for triggering the extension of word hits, combined with a new heuristic for generating gapped alignments, yields a gapped BLAST program that runs at approximately three times the speed of the original.
Journal ArticleDOI
LIBSVM: A library for support vector machines
Chih-Chung Chang,Chih-Jen Lin +1 more
TL;DR: Issues such as solving SVM optimization problems theoretical convergence multiclass classification probability estimates and parameter selection are discussed in detail.
Book
Molecular cloning : a laboratory manual
Joseph Sambrook,David W. Russell +1 more
TL;DR: The content has been entirely recast to include nucleic-acid based methods selected as the most widely used and valuable in molecular and cellular biology laboratories.