www.encodeproject.org - The ENCODE project uses Reference Genomes from NCBI or UCSC to provide a consistent framework for mapping high-throughput sequencing data. In general, ENCODE data are mapped consistently to 2 human (GRCH38, hg19) and 2 mouse...
github.com - Peregrine is a fast genome assembler for accurate long reads (length > 10kb, accuracy > 99%). It can assemble a human genome from 30x reads within 20 cpu hours from reads to polished consensus. It uses Sparse HIereachical MimiMizER (SHIMMER)...
Cost-effective whole human genome sequencing has revolutionized the landscape of genetic research and personalized medicine by making comprehensive genetic analysis accessible to a wider population. Through advancements in sequencing technologies,...
piRNAs are the unsung guardians of the genome, safeguarding genetic material from transposable elements and contributing to gene regulation and epigenetic programming. Bioinformatics has opened the floodgates of discovery, unraveling the...
We study the evolutionary genomics of marine invertebrates to understand their origins and diversity. Our lab combines high-throughput sequencing and single-cell transcriptomics to explore a wide range of non-model systems. We are particularly...
Consider a scenario in which a patient's genome has been sequenced. Among billions of DNA bases, a structural alteration may explain the patient's disease. Multiple advanced algorithms analyze the data, yet only one detects the variant, while the...