H. Best

发表

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

I. Nelson, A. Toutain, J. Deleuze, 2020, European journal of medical genetics.

Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.

E. Lyon, S. Dobrowolski, Cindy Meadows, 2012, Genetic testing and molecular biomarkers.

Jovian enables direct inference of germline haplotypes from short reads via sequence-to-sequence modeling

Brendan D. O'Fallon, J. Durtschi, Ashini Bolia, 2022, bioRxiv.

Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing

Josue A Flores-Daboub, D. Viskochil, R. Mao, 2020, Journal of Medical Genetics.

Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology

Paul M. Rindler, Ira W. Deveson, S. Cawley, 2021, Nature Biotechnology.

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Paul M. Rindler, David P. Kreil, Paweł P. Łabaj, 2021, Genome biology.

Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies

J. Swensen, K. Gripp, C. Vaughn, 2013, Pediatric blood & cancer.

EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension

P. Bayrak-Toydemir, G. Elliott, M. Dodson, 2017, Chest.

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

Christine Miller, P. Grubb, Luca Brunelli, 2023, Children.

The SPRED1 Variants Repository for Legius Syndrome

D. Crockett, R. Mao, K. Mallempati, 2011, G3: Genes | Genomes | Genetics.

Effective variant filtering and expected candidate variant yield in studies of rare human disease

Brent S. Pedersen, Aaron R. Quinlan, D. Hunter Best, 2020, npj Genomic Medicine.

Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests

V. Jobanputra, C. Marshall, H. Rehm, 2022, medRxiv.

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

Brendan D. O'Fallon, Brendan O’Fallon, Jacob Durtschi, 2018, bioRxiv.

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

Brendan D. O'Fallon, J. Durtschi, D. Close, 2022, BMC Bioinformatics.