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IP Update: Cold Spring Harbor Laboratory, MathWorks, among Recent Bioinformatics Patent Winners

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US Patent 8,554,488. Determining a probabilistic diagnosis of autism by analysis of genomic copy number variations. Inventors: Michael Wigler, Lakshmi Muthuswamy, Jonathan Sebat . Assignee: Cold Spring Harbor Laboratory

Describes methods of "assigning probabilistic measure[s] of clinical outcome for a patient having a disease or a tumor using segmented genomic profiles such as those produced by representational oligonucleotide microarray analysis."


US Patent 8,554,488. Computer-implemented cellular modeling having parallel pathways. Inventors: Patrick Edson, Ricardo Paxson . Assignee: The MathWorks

According to the abstract, this patent is for a computer-implemented method for cellular modeling


US Patent 8,538,704. Computerized method and system for inferring genetic findings for a patient. Inventors: Mark Hoffman, David McCallie. Assignee: Cerner Innovation

According to the abstract, this patent is for a computerized method for inferring genetic findings for patients that are calculated "using genetic findings for family members of the patient, linkage analysis, haplotype analysis, semantic test results for the person, and/or population genetics information."


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The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.