MOLECULAR GENETIC DIAGNOSTIC SYSTEM
First Claim
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1. A computer-implemented method of diagnosing a genetic influence for a condition in a proband, comprising:
- by a processor and from a list of genetic variants, removing variants not compatible with a Mendelian inheritance model determined by an input to the processor and based on a family history of the proband;
from the list of variants, removing variants that are present in unaffected controls above a specified frequency and specified occurrence that are determined by the input; and
by a processor, identifying a genetic influence for the condition, based on one or more remaining variants in the list.
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Abstract
A computer-implemented bioinformatics program annotates human genetic variants by integrating multiple sources of information. The program rapidly filters variants that are unlikely to play a role in the etiology of particular diseases. This filtering may be performed based on such annotations, on clinical profiles and family histories, and on analyses under various inheritance models, in order to classify human variants and identify mutations influencing patients'"'"' diseases.
9 Citations
29 Claims
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1. A computer-implemented method of diagnosing a genetic influence for a condition in a proband, comprising:
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by a processor and from a list of genetic variants, removing variants not compatible with a Mendelian inheritance model determined by an input to the processor and based on a family history of the proband; from the list of variants, removing variants that are present in unaffected controls above a specified frequency and specified occurrence that are determined by the input; and by a processor, identifying a genetic influence for the condition, based on one or more remaining variants in the list. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 19)
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17. A computer implementation system for diagnosing a genetic influence for a condition in a proband, comprising:
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an input module that, by a processor, receives an input from a user; an inheritance filtering module that, by a processor, based on the input, and from a list of variants, removes variants not compatible with a Mendelian inheritance model, determined by an input to the processor, and based on a family history of the proband; a control filtering module that, by a processor, based on the input, and from the list of variants, removes variants that are present in unaffected controls above a specified frequency and specified occurrence that are determined by the input; an identifying module that, by a processor, identifies a genetic influence for the condition, based on one or more remaining variants in the list; and an output module that, by a processor, outputs the one or more remaining variants to a display. - View Dependent Claims (18, 20, 21, 22, 23, 24)
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25. A machine-readable medium comprising machine-readable instructions for causing a processor to execute a method comprising:
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(1) receiving an input from a user; (2) from a list of genetic variants, removing variants not compatible with a Mendelian inheritance model determined by an input to the processor and based on a family history of the proband; (3) from the list of variants, removing variants that are present in unaffected controls above a specified frequency and specified occurrence that are determined by the input; and (4) identifying a genetic influence for the condition, based on one or more remaining variants in the list. - View Dependent Claims (26, 27, 28, 29)
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Specification