# US 10,482,992 B2 · Genome browser

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- Number: US 10,482,992 B2
- Document ID: US10482992B2
- Status: Granted
- Kind: B2
- Application number: 14/991,392
- Filed: 2016-01-08
- Published: 2016-07-14
- Granted: 2019-11-19
- Earliest claimed: 2015-01-09
- Assignees: Ceres, Inc.
- Applicants: Ceres, Inc.
- Inventors: Maxim Troukhan; Stanislav Freidin; Nickolai Alexandrov; Timothy Swaller
- Web page: https://patentgrep.com/patent/US10482992B2

## CPC

- G16B 30/00: ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B 20/20: Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
- G16B 20/30: Detection of binding sites or motifs
- G16B 20/40: Population genetics; Linkage disequilibrium
- G16B 25/10: Gene or protein expression profiling; Expression-ratio estimation or normalisation
- G16B 45/00: ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
- G16C 99/00: Subject matter not provided for in other groups of this subclass
- G16B: BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16C: COMPUTATIONAL CHEMISTRY; CHEMOINFORMATICS; COMPUTATIONAL MATERIALS SCIENCE

## Abstract

This document describes, among other things, a computer-implemented method for displaying and analyzing sequenced genome data. The method can include obtaining, at a computing system, genomic data for a plurality of organisms. A graphical representation can of the genomic data can be generated by the computing system based at least on the genomic data for the plurality of organisms, and the graphical representation can include a plurality of tracks that are arranged to show one or more features of the genomic data for different ones of the plurality of organisms. The graphical representation can be output for display by the computing system.

## Claims

### Claim 1

A computer-implemented method for displaying and analyzing sequenced genome data, the method comprising:
obtaining, by a computing system, genomic data for a plurality of organisms;
generating, by the computing system and based at least on the genomic data for the plurality of organisms, a browser plate component displaying a first graphical representation of the genomic data, the first graphical representation comprising a plurality of vertical parallel tracks that are arranged to show one or more features of the genomic data for different ones of the plurality of organisms, wherein the plurality of vertical parallel tracks includes a first track that shows a first particular feature of a first organism, a second track that shows the first particular feature of a second organism, and a third track that shows the first particular feature of a third organism; and
upon an identification, by the computing system, that the first organism is designated as a reference organism, reconfiguring, by the computing system and in response to identifying that the first organism is designated as the reference organism, the browser plate component to display a second graphical representation of the plurality of vertical parallel tracks in the second graphical representation of the genomic data so that the first track that shows the first particular feature of the first organism is shown in a reference position of the graphical representation, the second and third tracks are shown in respective positions proximate to the reference position, and the first particular features of the second and third tracks are each shown relative to the first particular features of the first track, wherein reconfiguring the browser plate component comprises rearranging each vertical parallel track in accordance with a rank corresponding to a similarity score between each vertical parallel track and the first track.

### Claim 2 (depends on 1)

The computer-implemented method of claim 1, wherein the graphical representation of the genomic data is a first graphical representation of genomic data of a first chromosome;
the method further comprising generating, by the computing system, a second graphical representation of genomic data of a different, second chromosome, the second graphical representation comprising one or more tracks that are arranged to show one or more features of the genomic data of the second chromosome for at least one organism; and
outputting the second graphical representation for display.

### Claim 3 (depends on 2)

The computer-implemented method of claim 2, further comprising determining, by the computing system, syntenic regions of the genomic data of the first chromosome and the genomic data of the second chromosome; and
outputting, by the computing system, for display graphical elements that connect the first graphical representation and the second graphical representation, and that show corresponding syntenic regions of the genomic data of the first chromosome and the genomic data of the second chromosome.

### Claim 4 (depends on 1)

The computer-implemented method of claim 1, further comprising identifying that user input has entered a search query associated with a particular organism; and
obtaining, by the computing system, a set of search results that are determined to be responsive to the search query, each search result in the set of search results indicating a respective chromosomal sequence location for the particular organism.

### Claim 5 (depends on 4)

The computer-implemented method of claim 4, further comprising generating and outputting for display, by the computing system, a graphical representation of one or more chromosomes for the particular organism that shows graphical markers at locations of the one or more chromosomes that correspond to the respective chromosomal sequence locations indicated by the set of search results.

### Claim 6 (depends on 4)

The computer-implemented method of claim 4, further comprising receiving, by the computing system, an indication that user input selected a first search result from among the set of search results, and in response, automatically generating and outputting for display a graphical representation of the genomic data for the particular organism that shows a zoomed-in region corresponding to the location of the chromosome indicated by the first search result.

### Claim 7 (depends on 1)

The computer-implemented method of claim 1, further comprising:
receiving, by the computing system, an indication that the designation of the reference organism is changed from the first organism to the second organism; and
in response to receiving the indication that the designation of the reference organism is changed:
re-ordering, by the computing system, the plurality of tracks in the graphical representation of the genomic data so that the second track that shows the first particular feature of the second organism is shown in the reference position of the graphical representation, the first and third tracks are shown in respective positions outside of the reference position, and the first particular features of the first and third tracks are each shown relative to the first particular features of the second track, and
outputting, by the computing system, the re-ordered graphical representation of the genomic data for display.

### Claim 8 (depends on 7)

The computer-implemented method of claim 7, wherein re-ordering the plurality of tracks in the graphical representation comprises automatically arranging the plurality of tracks in descending order of determined genetic similarity between the second organism, due to the second organism being designated as the reference organism, and the corresponding organisms for each of the other tracks in the plurality of tracks, so that tracks corresponding to organisms that are more genetically similar to the second organism are caused to be shown in closer proximity to the second track and tracks corresponding to organisms that are less genetically similar to the second organism are caused to be shown a further distance from the second track.

### Claim 9 (depends on 7)

The computer-implemented method of claim 7, further comprising determining, by the computing system, the genetic similarities between the second organism and the corresponding organisms for each of the other tracks in the plurality of tracks based only on data for a portion of the chromosomal sequence of the organisms currently being outputted for display.

### Claim 10 (depends on 1)

The computer-implemented method of claim 1, wherein at least one of the plurality of tracks in the graphical representation shows a linear representation of codons in a chromosome sequence of an organism.

### Claim 11 (depends on 10)

The computer-implemented method of claim 10, wherein at least one of the plurality of tracks is an m RNA track that shows locations of transcribed regions of the chromosome sequence.

### Claim 12 (depends on 1)

The computer-implemented method of claim 1, wherein the first particular feature comprises single nucleotide polymorphisms (SNPs),
the method further comprising generating, by the computing system the graphical representation of the genomic data so that the second track shows, as a result of the first organism being designated as the reference organism, SNPs in the genomic data of the second organism relative to the genomic data of the first organism shown in the first track.

### Claim 13 (depends on 12)

The computer-implemented method of claim 12, wherein the second track shows SNPs in the genomic data of the second organism relative to the genomic data of the first organism by showing colored elements along the second track at locations that correspond to locations in a chromosome sequence where SNPs occur that are opposite of SNPs in the genomic data of the first organism.

### Claim 14 (depends on 1)

The computer-implemented method of claim 1, further comprising obtaining, by the computing system, data that indicates expression levels for corresponding portions of the genomic data for one or more of the plurality of organisms.

### Claim 15 (depends on 14)

The computer-implemented method of claim 14, wherein the first particular feature comprises the expression levels for the corresponding portions of the genomic data,
the method further comprising generating, by the computing system, the graphical representation of the genomic data so that the second track shows, as a result of the first organism being designated as the reference organism, expression levels for the corresponding portions of the genomic data of the second organism relative to the expression levels of for the corresponding portions of the genomic data of the first organism.

### Claim 16 (depends on 15)

The computer-implemented method of claim 15, wherein the second track shows allele-specific expression levels.

### Claim 17 (depends on 14)

The computer-implemented method of claim 14, further comprising generating, by the computing system and based at least on the data that indicates the expression levels for the corresponding portions of the genomic data for the one or more of the plurality of organisms, a multidimensional plot showing variability in expression levels among different sets of expression data for particular ones of the plurality of organisms; and
outputting, by the computing system, the multidimensional plot for display.

### Claim 18 (depends on 17)

The computer-implemented method of claim 17, wherein generating the multidimensional plot comprises automatically limiting the plot to showing only expression levels of sequences corresponding to a portion the genomic data being outputted for display in the graphical representation of the genomic data, to the exclusion of expression levels of sequences outside of the portion of the genomic data being outputted for display in the graphical representation of the genomic data.

### Claim 19 (depends on 1)

The computer-implemented method of claim 1, wherein the first particular feature comprises at least one of quantitative trait loci (QTLs) and trait linkage scores for particular sequence locations.

### Claim 20 (depends on 1)

The computer-implemented method of claim 1, wherein the first particular feature comprises CpG islands,
the method further comprising generating, by the computing system, the graphical representation of the genomic data so that at least one of the plurality of tracks shows locations of CpG islands within the genomic data for a corresponding organism.

### Claim 21 (depends on 1)

The computer-implemented method of claim 1, wherein the plurality of tracks includes a fourth track that shows the first particular feature of a fourth organism; the method further comprising:
identifying, by the computing system, that the fourth organism is designated as a second reference organism; and
ordering, by the computing system and in response to identifying that the fourth organism is designated as the second reference organism and further based on the first organism being designated as the reference organism, the plurality of tracks in the graphical representation of the genomic data so that the fourth track is shown in a second reference position of the graphical representation, and the first particular features of the second and third tracks are each shown relative to both the first particular features of the first track and the first particular features of the fourth track.

### Claim 22 (depends on 1)

The computer-implemented method of claim 1, wherein the first and fourth organisms are ancestors of the second and third organisms.

### Claim 23 (depends on 1)

The computer-implemented method of claim 1, wherein the plurality of tracks are arranged to be displayed parallel to each other and are arranged to synchronously show corresponding portions of a chromosome sequence.

### Claim 24 (depends on 1)

The computer-implemented method of claim 1, wherein identifying that the first organism is designated as the reference organism comprises receiving an indication that user input selected a control associated with the first track or the first organism.

### Claim 25 (depends on 1)

The computer-implemented method of claim 1, wherein at least one of the plurality of tracks in the graphical representation of the genomic data shows a representation of recombination frequency in a chromosome sequence of an organism.

### Claim 26

One or more non-transitory computer-readable devices having instructions stored thereon that, when executed by one or more processors, cause performance of operations comprising:
obtaining, by a computing system, genomic data for a plurality of organisms;
generating, by the computing system and based at least on the genomic data for the plurality of organisms, a browser plate component displaying a first graphical representation of the genomic data, the first graphical representation comprising a plurality of vertical parallel tracks that are arranged to show one or more features of the genomic data for different ones of the plurality of organisms, wherein the plurality of vertical parallel tracks includes a first track that shows a first particular feature of a first organism, a second track that shows the first particular feature of a second organism, and a third track that shows the first particular feature of a third organism; and
upon an identification, by the computing system, that the first organism is designated as a reference organism, reconfiguring, by the computing system and in response to identifying that the first organism is designated as the reference organism, the browser plate component to display a second graphical representation of the plurality of tracks in the second graphical representation of the genomic data so that the first track that shows the first particular feature of the first organism is shown in a reference position of the graphical representation, the second and third tracks are shown in respective positions proximate to the reference position, and the first particular features of the second and third tracks are each shown relative to the first particular features of the first track, wherein reconfiguring the browser plate component comprises rearranging each vertical parallel track in accordance with a rank corresponding to a similarity score between each vertical parallel track and the first track.

### Claim 27 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein:
the graphical representation of the genomic data is a first graphical representation of genomic data of a first chromosome; and
the operations further comprise:
generating, by the computing system, a second graphical representation of genomic data of a different, second chromosome, the second graphical representation comprising one or more tracks that are arranged to show one or more features of the genomic data of the second chromosome for at least one organism, and
outputting, by the computing system, the second graphical representation for display.

### Claim 28 (depends on 27)

The one or more non-transitory computer-readable devices of claim 27, wherein the operations further comprise:
determining, by the computing system, syntenic regions of the genomic data of the first chromosome and the genomic data of the second chromosome; and
outputting, by the computing system, for display graphical elements that connect the first graphical representation and the second graphical representation, and that show corresponding syntenic regions of the genomic data of the first chromosome and the genomic data of the second chromosome.

### Claim 29 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein the operations further comprise identifying that user input has entered a search query associated with a particular organism; and
obtaining, by the computing system, a set of search results that are determined to be responsive to the search query, each search result in the set of search results indicating a respective chromosomal sequence location for the particular organism.

### Claim 30 (depends on 29)

The one or more non-transitory computer-readable devices of claim 29, wherein the operations further comprise generating, and outputting for display, by the computing system, a graphical representation of one or more chromosomes for the particular organism that shows graphical markers at locations of the one or more chromosomes that correspond to the respective chromosomal sequence locations indicated by the set of search results.

### Claim 31 (depends on 29)

The one or more non-transitory computer-readable devices of claim 29, wherein the operations further comprise receiving, by the computing system, an indication that user input selected a first search result from among the set of search results, and in response, automatically generating and outputting for display a graphical representation of the genomic data for the particular organism that shows a zoomed-in region corresponding to the location of the chromosome indicated by the first search result.

### Claim 32 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26,
wherein the operations further comprise:
receiving, by the computing system, an indication that the designation of the reference organism is changed from the first organism to the second organism; and
in response to receiving the indication that the designation of the reference organism is changed:
re-ordering, by the computing system, the plurality of tracks in the graphical representation of the genomic data so that the second track that shows the first particular feature of the second organism is shown in the reference position of the graphical representation, the first and third tracks are shown in respective positions outside of the reference position, and the first particular features of the first and third tracks are each shown relative to the first particular features of the second track, and
outputting, by the computing system, the re-ordered graphical representation of the genomic data for display.

### Claim 33 (depends on 32)

The one or more non-transitory computer-readable devices of claim 32, wherein re-ordering the plurality of tracks in the graphical representation comprises automatically arranging the plurality of tracks in descending order of determined genetic similarity between the second organism, due to the second organism being designated as the reference organism, and the corresponding organisms for each of the other tracks in the plurality of tracks, so that tracks corresponding to organisms that are more genetically similar to the second organism are caused to be shown in closer proximity to the second track and tracks corresponding to organisms that are less genetically similar to the second organism are caused to be shown a further distance from the second track.

### Claim 34 (depends on 32)

The one or more non-transitory computer-readable devices of claim 32, wherein the operations further comprise determining the genetic similarities between the second organism and the corresponding organisms for each of the other tracks in the plurality of tracks based only on data for a portion of the chromosomal sequence of the organisms currently being outputted for display.

### Claim 35 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein at least one of the plurality of tracks in the graphical representation shows a linear representation of codons in a chromosome sequence of an organism.

### Claim 36 (depends on 35)

The one or more non-transitory computer-readable devices of claim 35, wherein at least one of the plurality of tracks is an m RNA track that shows locations of transcribed regions of the chromosome sequence.

### Claim 37 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein:
the first particular feature comprises single nucleotide polymorphisms (SNPs); and
the operations further comprise generating the graphical representation of the genomic data so that the second track shows, as a result of the first organism being designated as the reference organism, SNPs in the genomic data of the second organism relative to the genomic data of the first organism shown in the first track.

### Claim 38 (depends on 37)

The one or more non-transitory computer-readable devices of claim 37, wherein the second track shows SNPs in the genomic data of the second organism relative to the genomic data of the first organism by showing colored elements along the second track at locations that correspond to locations in a chromosome sequence where SNPs occur that are opposite of SNPs in the genomic data of the first organism.

### Claim 39 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein the operations further comprise obtaining, at the computing system, data that indicates expression levels for corresponding portions of the genomic data for one or more of the plurality of organisms.

### Claim 40 (depends on 39)

The one or more non-transitory computer-readable devices of claim 39, wherein:
the first particular feature comprises the expression levels for the corresponding portions of the genomic data,
the operations further comprise generating the graphical representation of the genomic data so that the second track shows, as a result of the first organism being designated as the reference organism, expression levels for the corresponding portions of the genomic data of the second organism relative to the expression levels of for the corresponding portions of the genomic data of the first organism.

### Claim 41 (depends on 40)

The one or more non-transitory computer-readable devices of claim 40, wherein the second track shows allele-specific expression levels.

### Claim 42 (depends on 39)

The one or more non-transitory computer-readable devices of claim 39, wherein the operations further comprise:
generating, by the computing system and based at least on the data that indicates the expression levels for the corresponding portions of the genomic data for the one or more of the plurality of organisms, a multidimensional plot showing variability in expression levels among different sets of expression data for particular ones of the plurality of organisms; and
outputting, by the computing system, the multidimensional plot for display.

### Claim 43 (depends on 42)

The one or more non-transitory computer-readable devices of claim 42, wherein generating the multidimensional plot comprises automatically limiting the plot to showing only expression levels of sequences corresponding to a portion the genomic data being outputted for display in the graphical representation of the genomic data, to the exclusion of expression levels of sequences outside of the portion of the genomic data being outputted for display in the graphical representation of the genomic data.

### Claim 44 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein the first particular feature comprises at least one of quantitative trait loci (QTLs) and trait linkage scores for particular sequence locations.

### Claim 45 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein:
the first particular feature comprises CpG islands; and
the operations further comprise generating, by the computing system, the graphical representation of the genomic data so that at least one of the plurality of tracks shows locations of CpG islands within the genomic data for a corresponding organism.

### Claim 46 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein the plurality of tracks includes a fourth track that shows the first particular feature of a fourth organism;
the method wherein the operations further comprise:
identifying, by the computing system, that the fourth organism is designated as a second reference organism; and
ordering, by the computing system and in response to identifying that the fourth organism is designated as the second reference organism and further based on the first organism being designated as the reference organism, the plurality of tracks in the graphical representation of the genomic data so that the fourth track is shown in a second reference position of the graphical representation, and the first particular features of the second and third tracks are each shown relative to both the first particular features of the first track and the first particular features of the fourth track.

### Claim 47 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein the first and fourth organisms are ancestors of the second and third organisms.

### Claim 48 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein the plurality of tracks are arranged to be displayed parallel to each other and are arranged to synchronously show corresponding portions of a chromosome sequence.

### Claim 49 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein identifying that the first organism is designated as the reference organism comprises receiving an indication that user input selected a control associated with the first track or the first organism.

### Claim 50 (depends on 26)

The one or more non-transitory computer-readable devices of claim 26, wherein at least one of the plurality of tracks in the graphical representation of the genomic data shows a representation of recombination frequency in a chromosome sequence of an organism.

### Claim 51

A computer program product, stored on one or more non-transitory computer-readable devices, for analyzing and representing genome-related biological data, the program product including:
a genotype tracks module configured to generate and output for display a graphical user interface comprising a browser plate component displaying one or more vertical parallel tracks showing features of genomic data for corresponding organisms;
a similarity analyzer configured to determine similarities between corresponding portions of genetic sequences for a reference organism and two or more additional organisms; and
a track arrangement module configured to reconfigure the display of the one or more vertical parallel tracks, wherein the track arrangement module reconfigures the display such that a first track corresponding to the reference organism is displayed in a reference position and the two or more additional organisms are displayed based on the determined similarities between the corresponding portions of genetic sequences for the reference organism and the two or more additional organisms, wherein the reconfiguring comprises rearranging each vertical parallel track in accordance with a rank corresponding to a similarity score between each vertical parallel track and the first track.

### Claim 52 (depends on 51)

The computer program product of claim 51, further comprising a search module configured to receive queries from user input, and to identify search results that are determined to be responsive to the queries in that the search results correspond to candidate locations in a chromosomal sequence for particular organisms associated with the queries.
