Andrew B. Stergachis

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Short-Read Sequencing Benchmarking with Donor-Specific Assemblies

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-06-28

• Saturation Genome Editing reveals the functional impact of RAD51D <i>and</i> XRCC2 variants

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-06-13

• Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-04-15

• Haplotype-Resolved Genomics Reveals Conserved Chromatin Architecture and Epigenetic Constraints of Human Neocentromeres

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-25 · 2 citations

• Mapping single-cell diploid chromatin fiber architectures using DAF-seq

  Nature Biotechnology · 2025-12-03 · 4 citations

• Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsPreprint

  medRxiv · 2025-11-13 · 3 citations

• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

  Genome Medicine · 2025-10-21 · 8 citations

• Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read dataPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-10-14 · 1 citations

• A telomere-to-telomere map of somatic mutation burden and functional impact in cancerPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-10-13 · 6 citations

• Protamine lacunae preserve the paternal chromatin landscape in spermPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-10-05 · 3 citations

• A complete diploid human genome benchmark for personalized genomicsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-09-21 · 21 citations

• CUT&amp;TIME captures the history of open chromatin in developing neuronsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-08-31 · 1 citations

• The Somatic Mosaicism across Human Tissues Network

  Nature · 2025-07-02 · 42 citations

• ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

  Genetics in Medicine · 2025-06-23 · 54 citations

• The regulatory potential of transposable elements in maize

  Nature Plants · 2025-05-13 · 17 citations

• Conservation of dichromatin organization along regional centromeres

  Cell Genomics · 2025-03-27 · 15 citations

• Genetic diversity and regulatory features of human-specific <i>NOTCH2NL</i> duplicationsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-03-16 · 2 citations

• Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon

  Cell Genomics · 2025-03-14 · 10 citations

• Integrating Single-Molecule Sequencing and Deep Learning to Predict Haplotype-Specific 3D Chromatin Organization in a Mendelian ConditionPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-03-02 · 1 citations

• Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

  Nature Genetics · 2025-01-29 · 33 citations