Primo A. Baybayan

Identification of de novo variants from parent-proband duos via long-read sequencing

duoNovo identifies de novo variants from parent-proband duos using long-read sequencing, achieving high precision and low error rates in diagnostic evaluations.

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

The paper describes a comprehensive genomic dataset from a tumor-normal pair with broad consent, generated using multiple sequencing technologies for benchmarking somatic variant detection.

Closing the gap: Solving complex medically relevant genes at scale

The paper introduces a targeted sequencing framework, TADGP, that accurately calls variants in complex medically relevant genes at lower cost than HiFi-WGS, enabling scalable analysis of dark genomic regions.

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

Variant Phasing and Haplotypic Expression from Single-molecule Long-read Sequencing in Maize

The paper develops a tool for haplotype phasing and expression analysis in maize using single-molecule long-read sequencing, revealing allele-specific and imprinted gene expression.

Sequence and annotation of 42 cannabis genomes reveals extensive copy number variation in cannabinoid synthesis and pathogen resistance genes

Long-read assemblies of an inbred cannabis trio plus whole-genome sequencing of 40 cultivars link cannabinoid synthase gene deletions to chemotype and associate CsTLP1 loss with powdery mildew susceptibility.

A High-Quality Genome Assembly from a Single, Field collected Spotted Lanternfly (Lycorma delicatula) using the PacBio Sequel II System

The paper presents a high-quality genome assembly of a field-collected Spotted Lanternfly using PacBio long-read sequencing, achieving high contiguity and completeness.

Single molecule real time (SMRT) full length RNA-sequencing reveals novel and distinct mRNA isoforms in human bone marrow cell subpopulations

The paper uses SMRT full-length RNA sequencing to identify novel mRNA isoforms in human bone marrow progenitor and differentiated cells, revealing distinct transcript and protein isoforms that distinguish cell subpopulations.

A High-Quality De Novo Genome Assembly from a Single Mosquito using PacBio Sequencing

This paper presents a high-quality de novo genome assembly of a single Anopheles coluzzii mosquito using a modified PacBio protocol, achieving high contiguity and completeness with low DNA input.

A high-quality, long-read de novo genome assembly to aid conservation of Hawaii’s last remaining crow species

The paper presents a high-quality long-read genome assembly for the Alala, a critically endangered Hawaiian crow, to support conservation efforts through genomic tools and comparative studies.