User profiles for M. C. Schatz

Michael C. Schatz

Bloomberg Distinguished Professor, Johns Hopkins University
Verified email at cs.jhu.edu
Cited by 48556

Piercing the dark matter: bioinformatics of long-range sequencing and mapping

FJ Sedlazeck, H Lee, CA Darby, MC Schatz - Nature Reviews Genetics, 2018 - nature.com
Several new genomics technologies have become available that offer long-read sequencing
or long-range mapping with higher throughput and higher resolution analysis than ever …

[HTML][HTML] Current challenges in de novo plant genome sequencing and assembly

MC Schatz, J Witkowski, WR McCombie - Genome biology, 2012 - Springer
… Michael C Schatz … Park SJ, Jiang K, Schatz MC, Lippman ZB: Rate of meristem
maturation determines inflorescence architecture in tomato. Proc Natl Acad Sci USA. 2012 …

The complete sequence of a human genome

…, JL Gerton, RJ O'Neill, W Timp, JM Zook, MC Schatz… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

The contribution of de novo coding mutations to autism spectrum disorder

…, L Rodgers, J Troge, G Narzisi, S Yoon, MC Schatz… - Nature, 2014 - nature.com
Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

Phased diploid genome assembly with single-molecule real-time sequencing

…, C Luo, JR Ecker, D Cantu, DR Rank, MC Schatz - Nature …, 2016 - nature.com
While genome assembly projects have been successful in many haploid and inbred species,
the assembly of noninbred or rearranged heterozygous genomes remains a major …

[PDF][PDF] De novo gene disruptions in children on the autistic spectrum

…, RB Darnell, ER Mardis, RK Wilson, MC Schatz… - Neuron, 2012 - cell.com
Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …

[HTML][HTML] Big data: astronomical or genomical?

…, RH Campbell, C Zhai, MJ Efron, R Iyer, MC Schatz… - PLoS …, 2015 - journals.plos.org
Genomics is a Big Data science and is going to get much bigger, very soon, but it is not known
whether the needs of genomics will exceed other Big Data domains. Projecting to the year …

[HTML][HTML] A whole-genome assembly of the domestic cow, Bos taurus

AV Zimin, AL Delcher, L Florea, DR Kelley, MC Schatz… - Genome biology, 2009 - Springer
Background The genome of the domestic cow, Bos taurus, was sequenced using a mixture
of hierarchical and whole-genome shotgun sequencing methods. Results We have …

Accurate detection of complex structural variations using single-molecule sequencing

…, H Fang, M Nattestad, A Von Haeseler, MC Schatz - Nature …, 2018 - nature.com
Structural variations are the greatest source of genetic variation, but they remain poorly
understood because of technological limitations. Single-molecule long-read sequencing has the …

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

…, Y Qian, CS Chin, AM Phillippy, MC Schatz… - Nature …, 2019 - nature.com
The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing (…