Selection device for candidate sequence information for similarity determination, selection method, and use for such device and method
US-2015379197-A1 · Dec 31, 2015 · US
US9582639B2 · US · B2
| Field | Value |
|---|---|
| Publication number | US-9582639-B2 |
| Application number | US-201213683016-A |
| Country | US |
| Kind code | B2 |
| Filing date | Nov 21, 2012 |
| Priority date | Aug 11, 2006 |
| Publication date | Feb 28, 2017 |
| Grant date | Feb 28, 2017 |
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Mobile telecommunications or personal computing apparatus may be specially programmed for predicting whether an unknown biological specimen of an individual to be identified originates from or is related to a member of a particular family. The apparatus may comprise an input device including a barcode reader and a virtual touch screen keyboard whereby DNA profile or mass spectrometry test data may be entered among other data for an individual to be identified, for example, a missing person, victim, crime perpetrator or other unknown individual in hypothetical relationship to another individual or to a family pedigree of typed family members. The typed family pedigree in relation to the individual to be identified in hypothetical relation may be displayed on an output display of the apparatus including at least two different profile typing indicators for each displayed member of the pedigree.
Opening claim text (preview).
The invention claimed is: 1. A computer-implemented method of collecting first and second DNA profile data using first and second different DNA typing technologies about an unidentified remain and first and second DNA profile data of the same first and second DNA typing technologies of each of a selected first and a selected second family member genetically related to a hypothesized identity of the unidentified remain and the first and the second family members being selected via application of a family member selection rule base considering available members of the family for DNA typing, the family member data including first and second DNA profile data obtained from a specimen associated with a selected typed family member and a genetic relationship existing among each of the first and the second selected family member and the hypothesized identity of the unidentified remain, the method for determining one of a likelihood that the unidentified remain corresponds to a missing person genetically related to each of the selected first and second typed family member and that the unidentified remain can be excluded as not consistent with the first and the second selected typed family member, the method for implementation on telecommunications computer apparatus comprising a processor, an input device coupled to the processor comprising one of a touch screen of a display, a camera, a keyboard and a bar code reader for reading one and two dimension bar codes, an output device coupled to the processor comprising a display, a telecommunications interface coupled to the processor, and a memory for storing the first and the second DNA profile data obtained from said unidentified remain and said first and said second DNA profile data obtained from each specimen of said first selected and said second selected typed family member, the memory coupled to the processor, the computer-implemented method comprising: (a) storing the first and the second DNA profile data obtained from typing said unidentified remain using the first and the second DNA typing technologies in said memory via said bar code reader input device for reading a one dimension bar code uniquely identifying the unidentified remain and two different associated two dimension bar codes for transformation to the first and the second DNA profile data of the two different typing technologies for the unidentified remain; (b) storing a genetic relationship in said memory among said hypothesized identity of said unidentified remain of said missing person and each of said first and said second selected family member and family member and hypothesized identity identification data input via said input device; (c) storing said first and said second DNA profile data of each of the first and the second selected family member in said memory, each of the first and the second selected family members uniquely identified by a one dimension bar code and their associated first and second DNA profile data represented by two different two dimension bar codes being uniquely transformable into first and second DNA profile data of the first and the second DNA typing technologies, said first and said second DNA profile data obtained from the specimen associated with each of the first and the second selected typed family member and storing said first and said second DNA profile data from the unidentified remain, said first and said second family member DNA profile data for each of said first and said second selected typed family member being identified with a different two-dimensional bar code representing the same first and second typing technologies used for typing the unidentified remain; (d) displaying a family pedigree representing genetic relationships among the first and the second family members and the hypothesized identity of the unidentified remain, the family pedigree displayed on said display, said family pedigree being responsive to input received by said input device, said input causing information about a selected family member to be displayed including the stored DNA profile data associated with the selected family member, an identity being input by the input device and at least one of a first and a second type of collected DNA profile data each indicated by a predetermined color, each type comprising one of STR, Y-STR and mitochondrial DNA, at least one DNA typing technology comprising STR; (e) evaluating the genetic consistency of said stored genetic relationship by computing a pedigree likelihood ratio for each of said stored first and said second DNA typing technologies using said DNA profile data of each of said selected typed family member with said first and said second DNA profile data of said unidentified remain and a joint likelihood ratio computed as the product of the pedigree likelihood ratios; and (f) using the computed joint likelihood ratio to output a decision whether said stored genetic relationship and said stored first and said second DNA profile data obtained from the specimen associated with the first and second selected typed family member and said unidentified remain are consistent and outputting a decision of whether there exists one of said genetic relationship among the first and second family members and the hypothesized identity of the unidentified remain and exclusion of said genetic relationship among the first and second family members and the unidentified remain, including computing of the pedigree likelihood ratio according to evaluating the genetic consistency using a modified Elston Stewart algorithm for determining a likelihood that the unidentified remain corresponds to a missing person genetically related to each of the typed first and second second family member or can be excluded as not consistent with the typed first and second selected available family member, the modification expressing a probability of mutation. 2. The method of claim 1 where said first and said second DNA profile data each represented by first and second two dimensional bar codes is input by the bar code reader input device first reading a one-dimensional bar code uniquely identifying the unidentified remain and inputting the hypothesized identity of the unidentified remain via the input device and then reading each of the first and second different associated two-dimensional bar codes, each representing different of the first and second DNA profile data determined for each of the first and the second type of collected DNA profile data for the unidentified remain. 3. The method of claim 2 where said first and said second DNA profile data is obtained by using said a one-dimensional bar code to identify the unidentified remain and the first and second two-dimensional bar codes to identify the first and the second DNA profile data of the first and second different DNA profile technology types for the unidentified remain and accessing a particular database containing DNA profile data via a telecommunications interface. 4. The method of claim 3 where said database containing DNA profile data does not reside on the telecommunications computer apparatus and is accessed using the telecommunications interface. 5. The method of claim 1 where said DNA profile data about a selected typed first and second family member is supplemented to add first and second DNA profile data obtained from a specimen associated with a third family member selected using the family member selection rule base from available family members. 6. The method of claim 1 where the first and second DNA profile data for the unidentified remain are stored remotely in a database of first and second DNA profile data for each of a plurality of individuals. 7. The method of claim 1 where the device is hand-held. 8. The method of claim 1 where the device is a mobile t
Physics · mapped topic
Physics · mapped topic
Physics · mapped topic
ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding · CPC title
Sequence alignment; Homology search · CPC title
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