Collaborator: Boston Children’s Hospital

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

  August 1, 2026

• Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification

  April 2, 2026

• Large class of neurodevelopmental disorders requires genome sequencing for diagnosis

  August 3, 2026

• Expanding and automating the calibration of computational tools for clinical variant classification

  April 2, 2026

• The GUARDIAN expanded newborn screening study: Short-and medium-term follow-up with the first 15,000 participants enrolled

  April 2, 2026

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

  Presenting Author: Leandros Boukas, MD, Children’s National; Boston Children’s Take home point: Being able to tell if a variant is de novo or inherited is critical for variant classification but is not possible unless you have both parents.  We developed a tool using long-read sequencing leveraging phased haplotyping which allows determination of de novo status for…

  April 2, 2026

• Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

• The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

• 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)

• Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments