Job Description:
The role of this candidate will be to analyze rare disease exomes and genomes in order to identify causal candidate genes and variants. This will involve improving and maintaining scalable pipelines required for the analysis of large genomic data sets. Lastly, the candidate will also manage and coordinate activities for their respective rare disease cohorts. This candidate will work in close collaboration with members of the Broad Center of Mendelian Genomics comprising of analyst, genetic counsellors and clinicians. The candidate will present results and progress regular team and other Broad meetings. The candidate should have a strong background in computer science or related discipline, have fluency with human genetics, and be able to adapt quickly and be part of a cross-functional team in a rapidly changing environment. REQUIREMENTS: -Undergraduate degree in Computer Science, Bioinformatics, or other relevant scientific discipline or equivalent experience required. -Basic understanding of human genetics and next-generation DNA sequencing. -Familiarity with genomic data, tools and databases. -Demonstrated attention to detail and analytical skills. -Excellent communication skills. -Excellent organization and time management skills. -Must have demonstrated proficiency with several of the following technologies: Python, Java, Perl, R, SQL, C++, Unix. -Highly collaborative and able to work well in a team.
Additional Info:
GROUP DESCRIPTION: The Broad Center for Mendelian Genomics (CMG) is a collaborative venture between the Broad Institute of MIT and Harvard, Boston Children's Hospital, Rockefeller University and many other participating institutions. The main goals of the Center are: to discover new genes underlying Mendelian diseases; to develop collaborative networks of investigators to facilitate gene discovery, validation and follow-up; and to generate new methods for gene discovery applicable across a wide spectrum of rare disorders. The Center works closely with members of the MacArthur lab that are responsible for building the Genome Aggregation Database (gnomAD), the world's largest collection of exome and genome sequencing data (gnomad.broadinstitute.org). Over the next three years the Center will be applying exome, genome and transcriptome sequencing technology to more than 4,000 families affected by rare Mendelian diseases, and combining these data with our in-house reference databases from more than 100,000 reference samples from gnomAD to find new genetic diagnoses and disease genes. EOE/Minorities/Females/Protected Veterans Disabilities[Click Here to Access the Original Job Post]
The role of this candidate will be to analyze rare disease exomes and genomes in order to identify causal candidate genes and variants. This will involve improving and maintaining scalable pipelines required for the analysis of large genomic data sets. Lastly, the candidate will also manage and coordinate activities for their respective rare disease cohorts. This candidate will work in close collaboration with members of the Broad Center of Mendelian Genomics comprising of analyst, genetic counsellors and clinicians. The candidate will present results and progress regular team and other Broad meetings. The candidate should have a strong background in computer science or related discipline, have fluency with human genetics, and be able to adapt quickly and be part of a cross-functional team in a rapidly changing environment. REQUIREMENTS: -Undergraduate degree in Computer Science, Bioinformatics, or other relevant scientific discipline or equivalent experience required. -Basic understanding of human genetics and next-generation DNA sequencing. -Familiarity with genomic data, tools and databases. -Demonstrated attention to detail and analytical skills. -Excellent communication skills. -Excellent organization and time management skills. -Must have demonstrated proficiency with several of the following technologies: Python, Java, Perl, R, SQL, C++, Unix. -Highly collaborative and able to work well in a team.
Requeriments :
Skills :
- DNA sequencing
- Genetics
- genomic
- Lunix/Unix
- Next Generation Sequencing
- Programing in C++
- Programing in Python
- Programming in Java
- Programming in PERL
- Programming in R
- SQL
Areas :
Additional Info:
GROUP DESCRIPTION: The Broad Center for Mendelian Genomics (CMG) is a collaborative venture between the Broad Institute of MIT and Harvard, Boston Children's Hospital, Rockefeller University and many other participating institutions. The main goals of the Center are: to discover new genes underlying Mendelian diseases; to develop collaborative networks of investigators to facilitate gene discovery, validation and follow-up; and to generate new methods for gene discovery applicable across a wide spectrum of rare disorders. The Center works closely with members of the MacArthur lab that are responsible for building the Genome Aggregation Database (gnomAD), the world's largest collection of exome and genome sequencing data (gnomad.broadinstitute.org). Over the next three years the Center will be applying exome, genome and transcriptome sequencing technology to more than 4,000 families affected by rare Mendelian diseases, and combining these data with our in-house reference databases from more than 100,000 reference samples from gnomAD to find new genetic diagnoses and disease genes. EOE/Minorities/Females/Protected Veterans Disabilities[Click Here to Access the Original Job Post]