cfDNA Statistical Genomics Fellow (Postdoc/Senior)

Wellcome Genome Campus; Hinxton; Hybrid; GBP 39,000 - 50,000; Full time

Job summary

Wellcome Sanger Institute is seeking a Postdoctoral Fellow or Senior Postdoctoral Fellow focused on cell-free DNA (cfDNA) from pregnant women and people. You will develop statistical and deep learning methods to decode fetal/m maternal genotypes from cfDNA and explore biomarkers for pregnancy complications using methylation-aware genome data.

You will collaborate with international partners, contribute to method development, and mentor junior researchers in a hybrid working environment on the

Qualifications

• PhD in statistics, statistical genetics, genetics, genomics, bioinformatics, machine learning or similar.
• Strong background in statistics or statistical genetics with ability to develop, implement and benchmark new statistical methods
• Experience working with raw sequence data (alignments, variant calling, quality control)
• Experience analysing large-scale human genetic or genomic data
• Full working proficiency in Python and/or R, and Unix/Linux
• Experience or enthusiasm for using AI tools to improving productivity in scientific research, statistical methods development and/or software development
• Knowledge and understanding of statistical methods appropriate for large-scale genetic research
• Previous experience writing highly reproducible code with github, Snakemake/Nextflow, RMarkdown or similar
• Experience developing pipelines or software for large-scale analyses of genomic data, including running workflows efficiently on HPC and/or cloud infrastructure
• Creativity and original scientific ideas
• Enthusiasm and commitment
• Attention to detail
• Effective problem-solving skills
• Ability to communicate ideas and results effectively both verbally and in writing
• Ability to prioritise, work independently and organise own workload
• Ability to collaborate effectively with an interdisciplinary team and collaborators

Responsibilities

• Develop statistical and deep learning methods for calling fetal and maternal genotypes from high-coverage sequence data on cfDNA, and for discovering new Mendelian disease genes using the resulting data. These methods will then be applied to study pregnancy complications in large samples.
• Develop biomarkers for pregnancy complications from methylation-aware whole-genome sequence data on cfDNA, including methods development to incorporate both epigenetic and genetic information in the same assay. You will have the opportunity to collaborate with groups at the Norwegian Institute of Public Health (Siri Eldevik Håberg), the University of Helsinki (Simone Rubinacci) and elsewhere.

Skills

PhD in statistics/genetics

Statistics background

Raw sequence data

Large-scale genomic data

Python/R

Unix/Linux

AI tools in research

Statistical methods

Reproducible code

Workflow/Pipeline dev

Education

PhD in statistics/genetics

Tools

GitHub

Snakemake

Nextflow

RMarkdown

Job description

Wellcome Sanger Institute is seeking a Postdoctoral Fellow or Senior Postdoctoral Fellow focused on cell-free DNA (cfDNA) from pregnant women and people. You will develop statistical and deep learning methods to decode fetal/m maternal genotypes from cfDNA and explore biomarkers for pregnancy complications using methylation-aware genome data.

You will collaborate with international partners, contribute to method development, and mentor junior researchers in a hybrid working environment on the