Long-read human genome sequencing and its applications
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …
emerged as powerful players in genomics. With the ability to generate reads tens to …
Genetic variation and the de novo assembly of human genomes
The discovery of genetic variation and the assembly of genome sequences are both
inextricably linked to advances in DNA-sequencing technology. Short-read massively …
inextricably linked to advances in DNA-sequencing technology. Short-read massively …
A complete reference genome improves analysis of human genetic variation
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …
Segmental duplications and their variation in a complete human genome
MR Vollger, X Guitart, PC Dishuck, L Mercuri… - Science, 2022 - science.org
Despite their importance in disease and evolution, highly identical segmental duplications
(SDs) are among the last regions of the human reference genome (GRCh38) to be fully …
(SDs) are among the last regions of the human reference genome (GRCh38) to be fully …
HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
Complete and accurate genome assemblies form the basis of most downstream genomic
analyses and are of critical importance. Recent genome assembly projects have relied on a …
analyses and are of critical importance. Recent genome assembly projects have relied on a …
Increased mutation and gene conversion within human segmental duplications
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been
systematically assessed because of the limitations of mapping short-read sequencing data …
systematically assessed because of the limitations of mapping short-read sequencing data …
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
VA Schneider, T Graves-Lindsay, K Howe… - Genome …, 2017 - genome.cshlp.org
The human reference genome assembly plays a central role in nearly all aspects of today's
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility
INTRODUCTION The rhesus macaque (Macaca mulatta) is one of the most widely used
nonhuman primate (NHP) models for studying human biology and disease. As a …
nonhuman primate (NHP) models for studying human biology and disease. As a …
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
ND Olson, J Wagner, J McDaniel, SH Stephens… - Cell genomics, 2022 - cell.com
Summary The precisionFDA Truth Challenge V2 aimed to assess the state of the art of
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …
variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge …