[HTML][HTML] A high-resolution map of human RNA translation
Translated small open reading frames (smORFs) can have important regulatory roles and
encode microproteins, yet their genome-wide identification has been challenging. We …
encode microproteins, yet their genome-wide identification has been challenging. We …
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
An integrated expression atlas of miRNAs and their promoters in human and mouse
MicroRNAs (miRNAs) are short non-coding RNAs with key roles in cellular regulation. As
part of the fifth edition of the Functional Annotation of Mammalian Genome (FANTOM5) …
part of the fifth edition of the Functional Annotation of Mammalian Genome (FANTOM5) …
The critically endangered vaquita is not doomed to extinction by inbreeding depression
In cases of severe wildlife population decline, a key question is whether recovery efforts will
be impeded by genetic factors, such as inbreeding depression. Decades of excess mortality …
be impeded by genetic factors, such as inbreeding depression. Decades of excess mortality …
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
Therapeutic base editing of human hematopoietic stem cells
Base editing by nucleotide deaminases linked to programmable DNA-binding proteins
represents a promising approach to permanently remedy blood disorders, although its …
represents a promising approach to permanently remedy blood disorders, although its …
Mapping and characterization of structural variation in 17,795 human genomes
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …
Large-scale ruminant genome sequencing provides insights into their evolution and distinct traits
INTRODUCTION The ruminants are one of the most successful mammalian lineages,
exhibiting extensive morphological and ecological diversity and containing several key …
exhibiting extensive morphological and ecological diversity and containing several key …
Genetic drift, selection and the evolution of the mutation rate
As one of the few cellular traits that can be quantified across the tree of life, DNA-replication
fidelity provides an excellent platform for understanding fundamental evolutionary …
fidelity provides an excellent platform for understanding fundamental evolutionary …
De novo birth of functional microproteins in the human lineage
Small open reading frames (sORFs) can encode functional" microproteins" that perform
crucial biological tasks. However, their size makes them less amenable to genomic analysis …
crucial biological tasks. However, their size makes them less amenable to genomic analysis …