SeqMule: automated pipeline for analysis of human exome/genome sequencing data
about
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasetsA Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing DataLong-read sequencing and de novo assembly of a Chinese genomeKBG syndrome involving a single-nucleotide duplication in ANKRD11.Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.VarCards: an integrated genetic and clinical database for coding variants in the human genome.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.ToTem: a tool for variant calling pipeline optimization.Sequence variant analysis of RNA sequences in severe equine asthmaMicrophysiological 3D model of amyotrophic lateral sclerosis (ALS) from human iPS-derived muscle cells and optogenetic motor neurons
P2860
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P2860
SeqMule: automated pipeline for analysis of human exome/genome sequencing data
description
2015 nî lūn-bûn
@nan
2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
SeqMule: automated pipeline for analysis of human exome/genome sequencing data
@ast
SeqMule: automated pipeline for analysis of human exome/genome sequencing data
@en
type
label
SeqMule: automated pipeline for analysis of human exome/genome sequencing data
@ast
SeqMule: automated pipeline for analysis of human exome/genome sequencing data
@en
prefLabel
SeqMule: automated pipeline for analysis of human exome/genome sequencing data
@ast
SeqMule: automated pipeline for analysis of human exome/genome sequencing data
@en
P2093
P2860
P356
P1433
P1476
SeqMule: automated pipeline for analysis of human exome/genome sequencing data
@en
P2093
Gholson J Lyon
Xiaolei Ding
Yufeng Shen
Yunfei Guo
P2860
P2888
P356
10.1038/SREP14283
P407
P577
2015-09-18T00:00:00Z
P5875
P6179
1010289905