Job Description
The Department of Pathology at the University of Alabama at Birmingham ( UAB ) is inviting applications from qualified candidates for a Clinical Genetic Variant Scientist through the Department of Pathology School of Medicine. This position will be essential to ensuring accurate and timely interpretation of genomic data and the preparation of high-quality clinical genetic reports. This role directly supports the diagnostic capabilities and patient care provided by the Medical Genomics Laboratory ( MGL ). Responsibilities include conducting genomic data analysis variant review and interpretation to support clinical genetic testing. Interpreting and summarizing genetic findings using scientific literature public and proprietary databases and analytical software tools. Research and publications in related areas are required. This candidate should have excellent communication and collaborative skills.
Required Qualifications
The candidate must have a Ph.D. or equivalent degree in Human Genetics Molecular Genetics Genomics Cancer Biology Bioinformatics Genetic Counseling Molecular Biology Pharmacology Medicine or a related field. A minimum of 1 year of experience in a clinical diagnostics laboratory or in clinical data interpretation. The candidate must demonstrate the ability to critically read analyze and interpret scientific literature. Must be highly collaborative and able to work well in a team. Must have good attention to details and ability to multi-task.
Preferred Qualifications
Previous experience in the following will be given strong consideration: familiarity with ACMG guidelines for variant interpretation as well as genomic data and relevant tools/databases such as ClinVar ClinGen Decipher OMIM gnomAD UCSC Genome Browser and HGMD . A strong foundation in human genetics as well as experience in rare genetic disease analysis. Knowledge of methods for sequence variants and copy number variants ( CNV ) detection and interpretation.
Required Experience:
IC
Job DescriptionThe Department of Pathology at the University of Alabama at Birmingham ( UAB ) is inviting applications from qualified candidates for a Clinical Genetic Variant Scientist through the Department of Pathology School of Medicine. This position will be essential to ensuring accurate and t...
Job Description
The Department of Pathology at the University of Alabama at Birmingham ( UAB ) is inviting applications from qualified candidates for a Clinical Genetic Variant Scientist through the Department of Pathology School of Medicine. This position will be essential to ensuring accurate and timely interpretation of genomic data and the preparation of high-quality clinical genetic reports. This role directly supports the diagnostic capabilities and patient care provided by the Medical Genomics Laboratory ( MGL ). Responsibilities include conducting genomic data analysis variant review and interpretation to support clinical genetic testing. Interpreting and summarizing genetic findings using scientific literature public and proprietary databases and analytical software tools. Research and publications in related areas are required. This candidate should have excellent communication and collaborative skills.
Required Qualifications
The candidate must have a Ph.D. or equivalent degree in Human Genetics Molecular Genetics Genomics Cancer Biology Bioinformatics Genetic Counseling Molecular Biology Pharmacology Medicine or a related field. A minimum of 1 year of experience in a clinical diagnostics laboratory or in clinical data interpretation. The candidate must demonstrate the ability to critically read analyze and interpret scientific literature. Must be highly collaborative and able to work well in a team. Must have good attention to details and ability to multi-task.
Preferred Qualifications
Previous experience in the following will be given strong consideration: familiarity with ACMG guidelines for variant interpretation as well as genomic data and relevant tools/databases such as ClinVar ClinGen Decipher OMIM gnomAD UCSC Genome Browser and HGMD . A strong foundation in human genetics as well as experience in rare genetic disease analysis. Knowledge of methods for sequence variants and copy number variants ( CNV ) detection and interpretation.
Required Experience:
IC
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