Genomic architecture of autism from comprehensive whole-genome sequence annotation

B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

The Chinese pine genome and methylome unveil key features of conifer evolution

S Niu, J Li, W Bo, W Yang, A Zuccolo, S Giacomello… - Cell, 2022 - cell.com
Conifers dominate the world's forest ecosystems and are the most widely planted tree
species. Their giant and complex genomes present great challenges for assembling a …

Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort

R Carapito, R Li, J Helms, C Carapito, S Gujja… - Science translational …, 2022 - science.org
The drivers of critical coronavirus disease 2019 (COVID-19) remain unknown. Given major
confounding factors such as age and comorbidities, true mediators of this condition have …

Regulatory controls of duplicated gene expression during fiber development in allotetraploid cotton

J You, Z Liu, Z Qi, Y Ma, M Sun, L Su, H Niu, Y Peng… - Nature …, 2023 - nature.com
Polyploidy complicates transcriptional regulation and increases phenotypic diversity in
organisms. The dynamics of genetic regulation of gene expression between coresident …

An open resource for accurately benchmarking small variant and reference calls

JM Zook, J McDaniel, ND Olson, J Wagner… - Nature …, 2019 - nature.com
Benchmark small variant calls are required for developing, optimizing and assessing the
performance of sequencing and bioinformatics methods. Here, as part of the Genome in a …

En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH

M Kimura, T Iguchi, K Iwasawa, A Dunn, WL Thompson… - Cell, 2022 - cell.com
Genotype-phenotype associations for common diseases are often compounded by
pleiotropy and metabolic state. Here, we devised a pooled human organoid-panel of …

The enormous repetitive Antarctic krill genome reveals environmental adaptations and population insights

C Shao, S Sun, K Liu, J Wang, S Li, Q Liu, BE Deagle… - Cell, 2023 - cell.com
Antarctic krill (Euphausia superba) is Earth's most abundant wild animal, and its enormous
biomass is vital to the Southern Ocean ecosystem. Here, we report a 48.01-Gb chromosome …

Integrated molecular and multiparametric MRI mapping of high-grade glioma identifies regional biologic signatures

LS Hu, F D'Angelo, TM Weiskittel, FP Caruso… - Nature …, 2023 - nature.com
Sampling restrictions have hindered the comprehensive study of invasive non-enhancing
(NE) high-grade glioma (HGG) cell populations driving tumor progression. Here, we present …

Guadecitabine plus ipilimumab in unresectable melanoma: five-year follow-up and integrated multi-omic analysis in the phase 1b NIBIT-M4 trial

TMR Noviello, AM Di Giacomo, FP Caruso… - Nature …, 2023 - nature.com
Association with hypomethylating agents is a promising strategy to improve the efficacy of
immune checkpoint inhibitors-based therapy. The NIBIT-M4 was a phase Ib, dose-escalation …

A rice variation map derived from 10 548 rice accessions reveals the importance of rare variants

T Wang, W He, X Li, C Zhang, H He… - Nucleic Acids …, 2023 - academic.oup.com
Detailed knowledge of the genetic variations in diverse crop populations forms the basis for
genetic crop improvement and gene functional studies. In the present study, we analyzed a …