about
Mitogenomes from The 1000 Genome Project reveal new Near Eastern features in present-day TuscansA generalized model to estimate the statistical power in mitochondrial disease studies involving 2×k tablesA novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like diseaseBigBWA: approaching the Burrows-Wheeler aligner to Big Data technologiesENGINES: exploring single nucleotide variation in entire human genomesCompletion of a worldwide reference panel of samples for an ancestry informative Indel assay.Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data.SparkBWA: Speeding Up the Alignment of High-Throughput DNA Sequencing Data.The SNPforID browser: an online tool for query and display of frequency data from the SNPforID project.SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data.SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access.Genome-wide identification of hypoxia-inducible factor binding sites and target genes by a probabilistic model integrating transcription-profiling data and in silico binding site prediction.A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groupsThe impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genomeAdaptive selection of an incretin gene in Eurasian populations.A genome-wide study of modern-day Tuscans: revisiting Herodotus's theory on the origin of the Etruscans.Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.Viability of in-house datamarting approaches for population genetics analysis of SNP genotypes.Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel.D5S2500 is an ambiguously characterized STR: Identification and description of forensic microsatellites in the genomics age.Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease.Global population variability in Qiagen Investigator HDplex STRs.Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples.Identification of genes carrying rare variants of moderate to large effect in schizophrenia: A replication study.Comprehensive molecular testing in patients with high functioning autism spectrum disorder.Call for participation in the neurogenetics consortium within the Human Variome Project.Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.Whole Exome Sequencing Identifies New Host Genomic Susceptibility Factors in Empyema Caused by Streptococcus pneumoniae in Children: A Pilot Study.Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disordersWhole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic diseaseGDF: Dealing with High-throughput Genotyping Multiplatform Data for Medical and Population Genetic Applicationspop.STR—An online population frequency browser for established and new forensic STRsViability of in-house datamarting approaches for population genetics analysis of snp genotypestagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries
P50
Q21131806-78DF2F5E-7253-488F-819E-B6E2A9A75B8FQ27026148-B32E36B4-45DC-47C3-BB18-4F452890321FQ28238461-358AD843-DA8F-4154-95F3-99D7BF3F0256Q28266802-DE18CFBB-2021-4DB2-B9C3-53982A72B145Q28744038-87AB0B02-34EC-4865-AB05-2785F9456296Q30487767-6C3880F6-B7ED-4DCB-9C75-0E17C31A34F8Q30982576-BCE78D79-51FF-437A-AA23-83E07FA7D49EQ31096337-5395B86B-631F-49D2-B3CA-158EFEAD14E9Q31155989-F4857002-F5FF-4743-928F-88950BC5927FQ33339293-544F47AC-834B-47C8-A133-C5A1F947AC60Q33375209-7A77DFB6-DC94-4DC4-BF29-DB302F627BE1Q33522878-4613C19E-77DE-448A-8929-DFAB55C6F279Q33573477-5E80884E-4E5E-425D-9F3B-C2E3D588766FQ34005963-32F421B1-1C2D-453D-8F26-E08E4A4E8DFCQ34452263-13202BC7-A6DE-448B-A2BA-E78F3655A06AQ35258812-9E6B9D0F-3FBA-40EB-A44C-FC7A2818852BQ35730438-A0E43FA6-72C5-44AF-A30B-A47036369FFFQ37149503-7765087F-A63D-44C3-A2FB-C2C73F9E4BA6Q38283644-B9C789A8-0F4D-48A9-9A86-A3932C4CFE7AQ38896479-994EFB84-8F49-42BC-B106-C52D34BDA92FQ38909912-B106346E-5C51-4CD1-8694-C462DAAF5DD9Q39705669-085F9091-D5FB-4479-A819-FB32BEEFC66BQ39922728-B7477A93-4A80-4296-B4DB-1DEAE741DDC2Q40973616-4CE36949-4E12-427F-AACE-2ECE38CE1549Q45324472-8AAB4C8B-1942-4AA3-BB03-6709A979AEEDQ45420132-253E57EB-9B00-44A2-B155-0FAD66A7F9E6Q45906433-9ACF0FA2-D303-43BF-B113-6F78020D0C6BQ48261229-D96BA9BF-C6F8-412A-9737-1A90A0A6DA97Q49646438-185159D9-70CC-442F-AFE8-D8288A9DF569Q50306630-3A0705C2-1A21-49F7-8744-3F0F4C507FE2Q51562888-56A8AFFA-4BB3-4049-BFE9-4027CCCE2DCEQ53368622-7175AEBE-D633-404F-808E-105DFFCD5FBBQ55284920-6BB4DFB2-2D96-45C7-A4D5-ECBBDD851EDCQ57083784-6F422341-3246-4AD0-817B-924B9309D3E2Q57083785-3198995D-83C5-4ECE-AAAF-664CF8522386Q57166488-053B7E2E-21D1-4622-A3F6-9D81BEDEDBB5Q60296938-0262BFE8-CA3D-41A1-9D2F-150AF2B640CDQ60296942-BDA1D14E-C566-4BF7-9390-B56823573E6AQ87592274-CA277CE6-E1B9-4EBC-81BA-E2EEF0F0A4C6
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jorge Amigo
@ast
Jorge Amigo
@en
Jorge Amigo
@es
Jorge Amigo
@nl
Jorge Amigo
@sl
type
label
Jorge Amigo
@ast
Jorge Amigo
@en
Jorge Amigo
@es
Jorge Amigo
@nl
Jorge Amigo
@sl
altLabel
Jorge Amigo-Lechuga
@en
prefLabel
Jorge Amigo
@ast
Jorge Amigo
@en
Jorge Amigo
@es
Jorge Amigo
@nl
Jorge Amigo
@sl
P1053
A-4892-2010
P106
P1153
24464783100
P21
P2456
P31
P3829
P496
0000-0002-1362-2605