Jorge Cesar Conde

US Patent:

20120110013, May 3, 2012

Filed:

Oct 28, 2011

Appl. No.:

13/283711

Inventors:

Jorge Conde - Cambridge MA, US
Nathaniel Pearson - Somerville MA, US

International Classification:

G06F 7/00
G06F 17/30

US Classification:

707772, 707791, 707E17014, 707E17045

Abstract:

The present invention pertains to methods, apparatuses and systems for providing a visually simple and salient display of an individual's genomic data overlaid onto one or more relational networks of one or more biological objects, such as information about genes, regulatory regions, promoters or enhancers. The present invention utilizes individual genomic variant information that is annotated with variant information of one or more relational networks having information of biological objects. The display also provides a representation as to the type and nature of individual's variant associated with the relational network such as homozygous variants, heterozygous variants, previously reported genotype-phenotype association, situation within a splice-site region, category of change (e.g., frameshift, nonsense, missense, etc.), predicted effect on protein function (function-changing, tolerated, etc.), and novelty.

US Patent:

20120078901, Mar 29, 2012

Filed:

Aug 31, 2011

Appl. No.:

13/222475

Inventors:

Jorge Conde - Cambridge MA, US

International Classification:

G06F 17/30

US Classification:

707736, 707E17002

Abstract:

The present invention relates to method and computer systems that provide a personal genome indexer. The present invention provides an output that allows individuals to access publically available scientific resources through the “prism” of their unique genetic code. Individual genetic information is indexed with information from public databases (e.g., PubMed database) that contain genetic information about the condition and the risk allele, and public databases (e.g., MedLinePlus database) that provide information about the condition. In an aspect, the present invention provides an output display that correlates an individual's specific risk alleles with genetic information and associated phenotypic condition based on one or more references from a publically accessible database, and/or a link to consumer health information about the phenotypic condition.