Results 51 to 60 of about 37,179 (261)
Germline Short Variant Discovery and Annotation Pipeline using GATK Tool
, 2023 Background and aims. Identifying of variants related to genetic diseases has become affordable with the advances in whole genome sequencing (WGS) enabled by the enhancements of next-generation sequencing technology. Germline and somatic variants are discovered with the help of bioinformatics pipelines utilizing specialized tools.
Bourawy, Ashraf, Abdalmunam Abdalla
openaire +1 more source
Advanced Science, EarlyView.FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni +17 more
wiley +1 more source
Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing. [PDF]
PLoS ONE, 2014 Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic mutations. However, NGS-based variant detection is still prone to errors, resulting in inaccurate variant calls. Here, we categorized the variants detected
Mi-Hyun Park +10 more
doaj +1 more source
Advanced Science, EarlyView.This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song +9 more
wiley +1 more source
Advanced Science, EarlyView.Salt stress significantly impacts plant growth. Through population transcriptome, eQTL and TWAS analyses, we identified several candidate genes potentially associated with salt stress response. Functional assays suggested that some of these genes may contribute to salt tolerance.
Lin Chen +12 more
wiley +1 more source
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss
Advanced Science, EarlyView.TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale +23 more
wiley +1 more source
Genetics Selection Evolution, 2023 Background Low-pass sequencing followed by sequence variant genotype imputation is an alternative to the routine microarray-based genotyping in cattle.
Audald Lloret-Villas +2 more
doaj +1 more source
Small indels identified with GATK and Pindel.
, 2015 Venn diagram summarizing small indels identified by GATK and by Pindel.
Maria Bernard (784328) +15 more
core +1 more source
Advanced Science, EarlyView.By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu +11 more
wiley +1 more source
Analysis of genomic alterations in cancer associated human pancreatic stellate cells
Scientific Reports, 2022 Pancreatic stellate cells (PSCs) constitute important cells of the pancreatic microenvironment and their close interaction with cancer cells is important in pancreatic cancer.
Viktoria Böker +10 more
doaj +1 more source