G16B10/00

Alignment free filtering for identifying fusions

Cell free nucleic acids from a test sample obtained from an individual are analyzed to identify possible fusion events. Cell free nucleic acids are sequenced and processed to generate fragments. Fragments are decomposed into kmers and the kmers are either analyzed de novo or compared to targeted nucleic acid sequences that are known to be associated with fusion gene pairs of interest. Thus, kmers that may have originated from a fusion event can be identified. These kmers are consolidated to generate gene ranges from various genes that match sequences in the fragment. A candidate fusion event can be called given the spanning of one or more gene ranges across the fragment.

MINING ALL ATOM SIMULATIONS FOR DIAGNOSING AND TREATING DISEASE
20230118842 · 2023-04-20 ·

The present disclosure describes methods for determining the functional consequences of mutations. The methods include the use of machine learning to identify and quantify features of all atom molecular dynamics simulations to obtain the disruptive severity of genetic variants on molecular function.

MINING ALL ATOM SIMULATIONS FOR DIAGNOSING AND TREATING DISEASE
20230118842 · 2023-04-20 ·

The present disclosure describes methods for determining the functional consequences of mutations. The methods include the use of machine learning to identify and quantify features of all atom molecular dynamics simulations to obtain the disruptive severity of genetic variants on molecular function.

METHODS AND SYSTEMS FOR DETERMINING ANCESTRAL RELATEDNESS

The present disclosure provides methods of estimating a degree of ancestral relatedness between individuals. In an aspect, a method comprises receiving haplotype data comprising genetic markers shared among a population of individuals; dividing the haplotype data into segments based on the genetic markers; for each of the population of test individuals: (i) based on the genetic markers, matching segments of the haplotype data that are identical-by-descent between two individuals, (ii) for each of the matched segments: dividing the matched segment into discrete genomic intervals, scoring each of the discrete genomic intervals based on a degree of matching within or between the individuals, correcting the scores for consistency, and (iii) calculating a weighted sum over the discrete genomic intervals of the matched segment, based on the corrected scores and assigned weights; and (d) estimating the degree of ancestral relatedness between the individuals based on the weighted sums of the matched segments.

Microbiome based systems, apparatus and methods for the exploration and production of hydrocarbons

There are provided methods, systems and processes for the utilization of microbial and related genetic information for use in the exploration, determination, production and recovery of natural resources, including energy sources, and the monitoring, control and analysis of processes and activities.

Microbiome based systems, apparatus and methods for the exploration and production of hydrocarbons

There are provided methods, systems and processes for the utilization of microbial and related genetic information for use in the exploration, determination, production and recovery of natural resources, including energy sources, and the monitoring, control and analysis of processes and activities.

HASH-BASED EFFICIENT COMPARISON OF SEQUENCING RESULTS

First and second sequenced outputs are accessed. The sequenced outputs contain variants occurring at different carriers and at different carrier positions. Hashes are generated over a selected pattern length of positions for those carrier positions that are shared between the sequenced outputs to produce window hashes for base patterns in first and second sequences. Each sequence is based on the shared carrier positions and the respective sequenced output. The window hashes are non-unique. Window hashes that occur less than a ceiling number times are selected. The selected window hashes are compared between the sequences on a starting position basis such that selected window hashes for base patterns having same start positions in the sequenced outputs are compared. Common window hashes are identified between the sequences based on the comparing. A similarity measure is determined between the sequences based on the common window hashes.

HASH-BASED EFFICIENT COMPARISON OF SEQUENCING RESULTS

First and second sequenced outputs are accessed. The sequenced outputs contain variants occurring at different carriers and at different carrier positions. Hashes are generated over a selected pattern length of positions for those carrier positions that are shared between the sequenced outputs to produce window hashes for base patterns in first and second sequences. Each sequence is based on the shared carrier positions and the respective sequenced output. The window hashes are non-unique. Window hashes that occur less than a ceiling number times are selected. The selected window hashes are compared between the sequences on a starting position basis such that selected window hashes for base patterns having same start positions in the sequenced outputs are compared. Common window hashes are identified between the sequences based on the comparing. A similarity measure is determined between the sequences based on the common window hashes.

SCORING METHOD FOR MATCHES BASED ON AGE PROBABILITY
20230161749 · 2023-05-25 ·

Disclosed herein relates to a method that improves the accuracy of producing family trees. The DNA of a target individual is processed to find a matching individual. Using the known family tree of the matching individual, multiple candidate family trees are generated with multiple proposed placements for the target individual. For each candidate family tree, a genetic likelihood for a proposed relationship and the other DNA test takers in the family tree. A birth-year probability is determined by identifying a most recent common ancestor (MRCA). The birth-year probability is based on the number of years between the target individual and the matching individual and a normal distribution of ages for parent-child age differences in a population. The genetic likelihood is converted to a genetic probability so that it can be compared with or added to the birth-year probability. Based on the two probabilities, the candidate family trees are sorted.

Finding relatives in a database

Determining relative relationships of people who share a common ancestor within at least a threshold number of generations includes: receiving recombinable deoxyribonucleic acid (DNA) sequence information of a first user and recombinable DNA sequence information of a plurality of users; processing, using one or more computer processors, the recombinable DNA sequence information of the plurality of users in parallel; determining, based at least in part on a result of processing the recombinable DNA information of the plurality of users in parallel, a predicted degree of relationship between the first user and a user among the plurality of users, the predicted degree of relative relationship corresponding to a number of generations within which the first user and the second user share a common ancestor.