Results 81 to 90 of about 37,179 (261)
Comparison of tools used in GATK best-practices pipeline and SparkGA2.
, 2019 Comparison of tools used in GATK best-practices pipeline and SparkGA2.
Nauman Ahmed (8086868) +2 more
core +1 more source
, 2016 Sentieon DNAseq Software is a suite of tools for running DNA sequencing secondary analyses. The Sentieon DNAseq Software produces identical results to the Genome Analysis Toolkit (GATK) Best Practice Workflow using HaplotypeCaller, with more than a 20 ...
Brendan D. Gallagher +3 more
core +2 more sources
Identification and validation of loss of function variants in clinical contexts
Molecular Genetics & Genomic Medicine, 2014 The choice of an appropriate variant calling pipeline for exome sequencing data is becoming increasingly more important in translational medicine projects and clinical contexts. Within GOSgene, which facilitates genetic analysis as part of a joint effort
Francesco Lescai +5 more
doaj +1 more source
Red panda: a novel method for detecting variants in single-cell RNA sequencing
BMC Genomics, 2020 Background Single-cell sequencing enables us to better understand genetic diseases, such as cancer or autoimmune disorders, which are often affected by changes in rare cells.
Adam Cornish +7 more
doaj +1 more source
Counts of BWA/GATK SNPs of each consequence within gene regions.
, 2012 Counts of BWA/GATK SNPs of each consequence within gene regions.
Eileen G. Hoal (121615) +7 more
core +1 more source
Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak
Animal Research and One Health, EarlyView.Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan +15 more
wiley +1 more source
Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep
Animal Research and One Health, EarlyView.Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang +3 more
wiley +1 more source
HPexome: An automated tool for processing whole-exome sequencing data
SoftwareX, 2020 Whole-exome sequencing has been widely used in clinical applications for the identification of the genetic causes of several diseases. HPexome is a command-line tool that automates many data processing tasks for exome-sequencing data analysis of large ...
Lucas L. Cendes +3 more
doaj +1 more source
Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis
Animal Research and One Health, EarlyView.Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li +10 more
wiley +1 more source
SNP calling results of seqEM, MAQ, GATK, SAMtools, and MAFsnp for the 1000 Genomes Project data.
, 2015 SNP calling results of seqEM, MAQ, GATK, SAMtools, and MAFsnp for the 1000 Genomes Project data.
Zidi Xiu (788145) +3 more
core +1 more source