Informatics | GenomeWeb

Informatics

The company is testing a database solution that will help clinical researchers store, manage, and analyze variant information ahead of full launch this quarter.

A Stanford team found that variants in conserved binding sites reflect individuals' medical histories.

Under the terms of the agreements, Qiagen will make CosmosID's platform available as a plug in, and Trigent will supply Qiagen's software to the FDA.

In a JNCCN paper, the investigators discussed their efforts to comprehensively characterize a single patient's breast tumor and test potential treatments.

The company will use the funds to further develop software for sharing genomic data, and to initiate research collaborations.

Processing data from genotyping chips
Accurate and fast mapping of reads to genome
Methods and systems for storing sequences read data
Biological data networks and methods therefor
Scalable pipeline for local ancestry inference
Trio-based phasing using a dynamic Bayesian network

In Science this week: experts say race is not a sufficient proxy for studying human genetic diversity and more.

Technology Review writes that CRISPR/Cas9 gene editing firm Editas' success may hinge on a patent case.

Researchers unearthed a bioinformatics error in the Science paper reporting the first ancient African genome, and the authors are seeking an erratum.

A boy's cystic fibrosis carrier status was revealed by a teacher to the parents of children with CF who then sought the boy's transfer to another school, leading to a lawsuit.

Feb
25
Sponsored by
Omicia

This webinar will demonstrate how ACMG's recommended variant scoring and classification rules may be applied to standardize reporting on sequencing test results within and across institutions.