Danny E. Miller

The complete sequence of a human genome

Sergey Nurk, Sergey Koren, Arang Rhie et al. · Science · 2022 · 3.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam, Monica R. McClain, Laurie Demmer et al. · Genetics in Medicine · 2021 · 629 citations · Full text

Life Sciences, Genetics, Pediatrics +17

A complete reference genome improves analysis of human genetic variation

Sergey Aganezov, Stephanie M. Yan, Daniela C. Soto et al. · Science · 2022 · 433 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Curated variation benchmarks for challenging medically relevant autosomal genes

Justin Wagner, Nathan D. Olson, Lindsay Harris et al. · Nature Biotechnology · 2022 · 252 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 239 citations · Full text

Life Sciences, Bioinformatics, Genetics +14