Yasin Memari is a Senior Bioinformatician who works on analysis of next generation sequencing and omics data. Since joining the Sanger Institute in January 2010 he has contributed to several projects including UK10K, ESGI and HipSci.
While doing a PhD in Physics at the University of Edinburgh, I became interested in statistical analysis and its applications in other inter-disciplinary sciences. Upon completing my PhD, I embarked on a new field of research in statistical genetics where I was fortunate to have early access to large scale human genome sequence data.
Initially I worked on genome-wide association analysis (GWAS) of quantitative traits which subsequently led me to become involved in the UK10K consortium. Within UK10K I was a core analyst responsible for central production of association analyses and meta-analyses of the cohorts populations across multiple cardio-metabolic and anthropometric traits.
In addition, I became a contact analyst for ESGI, a pan-European trans-national access programme involved in the training and the dissemination of knowledge of next generation sequencing technology among its participating institutes. I closely worked with several European research groups and delivered training and data which were used for different kinds of studies including population genetic and rare disease studies.
Eventually I became more involved in genome informatics and analysis of raw sequencing and omics data. In my current role, as part of the HipSci consortium, I develop the data processing pipelines for diverse biological assays from human IPSc lines. I have been in charge of workflow automation, bioinformatics analysis and quality control of the data.
I also have contributed to VRPipe, an open-source generic data and pipeline management system which is used for workflow automation and resource management by several groups at the Sanger Institute.
I have interests in translational genomics and applications of sequencing technology to genetic based medicine.
Common genetic variation drives molecular heterogeneity in human iPSCs.
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
American journal of human genetics 2017;100;6;865-884
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Nature genetics 2016;48;11;1303-1312
Whole-exome sequencing in an isolated population from the Dalmatian island of Vis.
European journal of human genetics : EJHG 2016;24;10;1479-87
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
American journal of human genetics 2016;99;2;460-9
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
American journal of respiratory cell and molecular biology 2016;55;2;213-24
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.
Nature communications 2016;7;12039
An interactive genome browser of association results from the UK10K cohorts project.
Bioinformatics (Oxford, England) 2015;31;24;4029-31
The UK10K project identifies rare variants in health and disease.
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Human molecular genetics 2015;24;19;5464-74
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
American journal of respiratory cell and molecular biology 2015;53;4;563-73
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature communications 2015;6;8111
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Annals of clinical and translational neurology 2015;2;5;492-509
Whole-genome sequence-based analysis of thyroid function.
Nature communications 2015;6;5681
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Nature communications 2014;5;4871
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Molecular genetics and metabolism 2014;111;3;342-52
Seventy-five genetic loci influencing the human red blood cell.
Genes contributing to pain sensitivity in the normal population: an exome sequencing study.
PLoS genetics 2012;8;12;e1003095
New gene functions in megakaryopoiesis and platelet formation.