According to one embodiment, a genotype estimation device includes: an acquirer configured to acquire a clustering strength of genotype data of a plurality of specimens including an unknown specimen whose genotype is not known and known specimens whose genotypes are known; and an estimator configured to estimate the genotype of the unknown specimen on the basis of the genotype data in response to the clustering strength being larger than a first threshold, and output an estimation result.

The present invention relates to detection of target nucleic acid sequences using different detection temperatures and reference values. The present invention employing different detection temperatures and reference values enables to detect a plurality of target nucleic acid sequences in conventional real-time manners even with a single type of label in a single reaction vessel.

Disclosed are methods and tools for rapidly aligning reads to a reference sequence. These methods and tools employ Bloom filters or similar set membership testers to perform the alignment. The reads may be short sequences of nucleic acids or other biological molecules and the reference sequences may be sequences of genomes, chromosomes, etc. The Bloom filters include a collection of hash functions, a bit array, and associated logic for applying reads to the filter. Each filter, and there may be multiple of these used in a particular application, is used to determine whether an applied read is present in a reference sequence. Each Bloom filter is associated with a single reference sequence such as the sequence of a particular chromosome. In one example, chromosomal abundance is determined by aligning reads from a sequencer to multiple chromosomes, each having an associated Bloom filter or other set membership tester.

Methods of evaluating or providing a clonal profile of a subject interval, e.g., a subgenomic interval, or an expressed subgenomic interval (or of a cell containing the same), in a subject, are disclosed.

The present disclosure describes software tools for effective biosecurity based on community knowledge and participation. Annotation tools described herein provide assistance to the synthetic biology community to track emerging science on the link between individual proteins and negative outcomes. Screening tools described herein enables the community to broaden both interest and effective practice of biosecurity so that practitioners and biological sequence or construct providers are empowered to evaluate the safety of order requests rather than waiting until synthesis or even expression. In addition, screening tools described herein provide for screening of polynucleotides across the same or multiple orders for sequences associated with harmful biological sequences from a reference database.

The technology can compute an approximation of a datastore storing a multiplicity of indexed data. An example method can a template including programming logic that, when executed, calculates output(s) based on input(s) and undetermined parameter(s). The undetermined parameter(s) are input into a machine learning framework. Data entries reflecting one or more inputs are retrieved from a datastore and input into the machine learning framework, which determines value(s) for the undetermined parameter(s), respectively (making them determined parameters). The example method generates an approximation of the datastore using the determined parameter(s) and the input(s).

System and methods for identifying nucleotides based on data acquired from a sensor during sequencing of nucleic acids. The method may include obtaining characteristics of light detected from luminescent labels associated with the nucleotides during nucleotide incorporation events. The characteristics may include, for each nucleotide incorporation event, a temporal characteristic the light and an intensity characteristic of the light. The temporal characteristic representing a speed of decay of a probability of photon emission by a luminescent label after excitation. The method may further include grouping points representing the characteristics of the nucleotide incorporation events into groups of points. The individual points may represent at least the temporal characteristic and the intensity characteristic for a corresponding nucleotide incorporation event. The method may further include assigning the groups of points to individual nucleotides.

Provided herein are methods for determining the ratio of one or more isoforms of a protein in a sample.

The present disclosure provides methods for optimizing barcode design for multiplex DNA sequencing. Also disclosed are DNA barcodes optimized for use with particular sequencing technologies.

Technology provided herein relates in part to methods, processes, machines and apparatuses for detecting genetic variations. In some embodiments, the technology is related to non-invasive assessment of aneuploidies.