Yiran GUO
Research Scientist, Center for Applied Genomics at the Children's Hospital of Philadelphia, USA

Yiran Guo received his Ph.D. degree in Bioinformatics from Chinese Academy of Sciences in 2009 and was trained for genomic data analysis in BGI, contributing to several next generation sequencing (NGS) based efforts, two of which are listed below. A) In the YH-1/First Asian Genome Project, discoveries of which was published in Nature (2008), he worked as a key bioinformatician, inferred YH-1's ancestry composition and screened variants in disease related genes in YH-1's genome sequence. B) He led a team of bioinformaticians and evolutionary genomics analysts to build a genetic variation map for 40 silkworm species, elucidating phylogenetic relationships between different domestic and wild silkworm and identifying regions in the silkworm genome that harbor genetic evidence of artificial selection as well as domestication history. Main findings of this work were published in Science (2009), and written as his Ph.D. thesis which earned him an Excellent Ph.D. thesis award of Chinese Academy of Science (2011).


He joined the Center for Applied Genomics at the Children's Hospital of Philadelphia (CAG@CHOP) as a Postdoctoral Fellow Researcher in 2009, and begun his training in human genetics and medical genetics under the supervision of CAG@CHOP director Dr. Hakon Hakonarson. At first he established an analytical pipeline for large scale genetic data coming from over 200,000 samples, and using that pipeline investigated genetic underpinnings of multiple common complex human diseases and traits presented as single nucleotide polymorphism (SNP) based genetic associations. His discoveries include new genes associated with human height (published in American Journal of Human Genetics/AJHG, 2010), type 2 diabetes (AJHG 2012), blood lipid levels (AJHG 2012 and PLoS One 2012), body mass index (BMI, published in Human Molecular Genetics/HMG, 2012), and central adiposity traits/obesity (HMG 2013). All of the discovered associations point to new potential targets as well as biological pathways that contribute to the genetics of common diseases and traits in human.


Starting from 2012, as a research associate and later a research scientist, he became the project manager/analytical team leader of the 1000 Rare Disease Sequencing Project, a collaborative effort between CAG@CHOP, BGI and ~15 research/clinical institutes around the world aiming at finding causal variants/genes behind various types of rare/Mendelian diseases through whole exome sequencing (WES) and genetic/bioinformatics analysis. More than 1000 samples from over 200 families have been sequenced/analyzed so far and this project has generated 21 publications, 11 of which list him as the first or a co-first author. In addition to detecting variants in reported disease causing genes, e.g. COLQ for Congenital Myasthenic Syndrome (Neuromascular Disorders 2014) and CSF1R for hereditary diffuse leukoencephalopathy with spheroids (Brain 2016), he identified multiple novel genes, such as TUBB4A for isolated hypomyelination (Neurology 2014), ACD for inherited bone marrow failure (Blood 2014), and MRPS7 for congenital sensorineural deafness and lactic acidemia in association with combined hepatic/renal failure (HMG 2015). He has received several honors and awards, plus a three year postdoctoral fellowship training grant from the Davis Foundation (2014).