From T2T-CHM13 reference assemblies to pangenome graphs -- explore cutting-edge genomics research, WGS bioinformatics, and structural variation analysis across diverse human populations.
Base Pairs (T2T)
Pangenome Haplotypes
Genomes Sequenced
Key domains in whole genome sequencing and computational genomics.
Short-read (Illumina), long-read (PacBio HiFi, ONT), and linked-read technologies for de novo assembly, variant calling, and clinical diagnostics.
Genetic diversity across global populations, selection signatures, demographic inference, and ancestry-informative markers for inclusive genomic medicine.
The Human Pangenome Reference Consortium (HPRC) graph-based genome capturing structural diversity absent from linear GRCh38/T2T references.
Insertions, deletions, inversions, translocations, and complex rearrangements detected through long-read sequencing and optical mapping.
BWA-MEM2, GATK, DeepVariant, hifiasm, Sniffles2, and Nextflow/WDL workflow orchestration for production-scale genome analysis.
Diagnostic WGS for rare diseases, tumor-normal sequencing in oncology, pharmacogenomic testing, and newborn screening applications.
Highlights from the genomics research community.
The HPRC draft pangenome reveals vast structural diversity missed by linear references, improving variant calling accuracy by 34% in complex regions.
Read moreN50 reads exceeding 100kb from Oxford Nanopore R10.4.1 chemistry allow gapless assembly of human centromeric satellite arrays for the first time.
Read moreStanford protocol delivers actionable WGS results for critically ill neonates within 26 hours, changing management in 72% of diagnosed cases.
Read moreSubmit a genomics research inquiry and connect with relevant resources.
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