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OVERVIEW

Arbor Diagnostics, Inc Laboratory at Dallas, TX (http://www.arbordiagnostics.org) is seeking a highly motivated, enthusiastic individual to join its Human Genetics Department's Bioinformatics team as a Bioinformatician. This individual will be responsible for Next-generation sequencing test validation and analyzing clinical genomics data generated in the facility for genetic carrier screening. In this role, you would be expected to have a level of knowledge to properly analyze results, especially where results are abnormal or atypical, while adhering to regulatory requirements. Our goal is to utilize next-generation DNA sequencing – based approach to yield the accuracy and completeness necessary for carrier screening tests and detection of variants in inherited diseases.

RESPONSIBILITIES

1. Implementation of computational tools and bioinformatics analysis pipelines for targeted gene panels
2. Complete quality control analysis of NGS data from Illumina or similar platform along-with base calling, read alignment, variant calling, and variant annotation
3. Variant filtering: Disease-targeted panels analysis of Exome Sequencing/ Genome Sequencing
4. Comply with quality standards and regulatory requirements throughout all phases of testing and analysis, and maintain quality assurance documentation
5. Understands and ensures HLI compliance in use of electronic record keeping with respect to health information
6. Applies the informatics processes that connects sample requisition to wet lab processes, data analysis, report writing, and transmission of final reports to referring physicians
7. Uses current software for next-generation sequencing variant calling and confirmations (e.g. BWA, GATK)
8. Experience in bioinformatics resources such as BLAST, BWA, GATK, dbGaP, Clustalw, NCBI, EBI, Pfam, COG, GO, KEGG, etc.
9. Identifies artifacts and trouble spots in genome sequence data as part of data interpretation, including the visualization of single nucleotide and copy number variation; basic biostatistical analysis of sequencing data; and analyzing and integrating data from orthogonal confirmation methods
10. Observe uses the following bioinformatics tools as part of interpretation work- genome browsers (UCSC, IGV, ENSEMBL), human genome variation databases (e.g., ClinVar, 1000Genomes, ESP), variant analysis software, if available (custom software or vendor software), in silico algorithms for prediction of effects of missense changes (PolyPhen, GERP, SIFT, Alamut, etc.)
11. Understands and applies basic biostatistical concepts, including case-control studies, odds ratios, use of different statistical measurements, appreciating outcomes of population studies

REQUIREMENTS

Special Knowledge, Skills, and Abilities:
1. Must have strong computer skills including familiarity with online databases (ExAC, HGMD, dbSNP, etc.) and in-silico variant assessment tools (SIFT, PolyPhen, etc) to aid in variant interpretation in addition to excellent verbal and written communication skills.
2. Candidates should have a strong background in the application of bioinformatics software for Illumina sequencing and utility programming in a UNIX environment.
3. Strong computer programming skills is preferable: Perl, or Python, C, C++ and R.

PREFERENCES

Education: Master's in bioinformatics or a related field
Experience: Six (6) years of experience with increasing responsibilities, next generation sequencing data analysis (preferably in a Clinical setting)
Strong analytical abilities and communication skills

LOCALE

Preferably located near Dallas TX

COMPENSATION

$75,000-150,000 annual salary

HOW TO APPLY

Please send your resume to mkorenvaes[at]doublehelixmgmt.com

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