Yan Ding

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

This study demonstrates that high-quality whole genome sequencing can be achieved from archived dried blood spots without PCR amplification, suitable for population genomic studies.

Somatic mosaicism in the mature brain reveals clonal cellular distributions during cortical development

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring

The paper analyzes sperm mosaic mutations in healthy males, finding that many are stable over time and pose a lifelong transmission risk to offspring.

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

An interlaboratory study of complex variant detection

This study evaluates synthetic specimens with challenging variants across 10 NGS workflows, finding limited variant detection consistency and highlighting bioinformatic limitations.