cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.25550/1-3v7p
title: FB0027_29 month old male_Multiple congenital anomalies

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Catherine Nowak of Boston Children's Hospital. Phenotype - Ankyloglossia - C-spine vertebral fusions, - Skull bone anomalies - Congenital plagiocephaly - Hearing loss
DOI: 10.25550/1-3v8a
title: FB0039_"Identical Male Twins"_Treacher Collins Syndrome

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Pedro Sanchez of Children's Hospital Los Angeles. Phenotype - Treacher Collins Syndrome - Twins share TCOF Exon 15 Splice site mutation c.2478+1G&gt;A
DOI: 10.25550/1-3v9e
title: FB0049_17 month old male with bilateral macrostomia

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Joan Stoler of Boston Children's Hospital. Phenotype - Spinal ultrasound due to sacral dimple – normal - Supernumerary nipple - Surgery to repair bilateral macrostomia - Broad, depressed nasal root
DOI: 10.25550/1-3vat
title: FB0062_Proband Only Saliva_Blepharo-cheilo-dontic (BCD) syndrome

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Pedro Sanchez of Children’s Hospital Los Angeles. Phenotype: - Blepharo-cheilo-dontic (BCD) syndrome
DOI: 10.25550/tpa
title: microCT - Soft Tissue of a Fgfr2fl/fl mouse at E18.5

description: Mouse ID: ZZ276 This dataset includes microCT scans of the skull of an Fgfr2fl/fl mouse at E18.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/tq4
title: Gene expression profiling of the palate in mice with a conditional inactivation of Erk2 at embryonic day E14.5

description: We performed global gene expression analyses of the palate in Wnt1-Cre;Erk2^fl/fl and Erk2^fl/fl control mice at embryonic day E14.5. Total RNA samples (1 ug per sample) were converted into biotin-labeled cRNA using the Enzo BioArray Terminal Labeling Kit with Biotin-ddUTP and standard protocols recommended by Affymetrix (Santa Clara, CA). Fragmented cDNA was applied to GeneChip® Mouse Genome 430 2.0 Arrays (Affymetrix) that contain probe sets designed to detect over 39000 transcripts. Microarrays were hybridized, processed and scanned as previously described using manufacturer’s recommended conditions.
DOI: 10.25550/tr6
title: Transgenic Mouse Enhancer Assay - Vista Enhancer ID: mm457

description: See link to the data preparation protocols for this study in the Additional Information section See links to Genome Browser in the Additional Information section. **Enhancer location:** Mouse genome mm9, chr15:62734249-62735453 **Name:** mCF143 **Vista Enhancer ID:** mm457 **Nearest craniofacial gene or locus:** 8q24 **Enhancer expression:** Negative This data set includes the following: * A .pdf file that summarizes the whole-mount data for the tested element. This file includes light microscopy whole-mount images of the LacZ reporter gene expression in mouse embryos, a summary of the annotation of the expression pattern, the DNA sequence of the tested element in Fasta format, and the sequences of the primers used to generate the test construct.Follow corresponding link in the Additional Information section to see this information in the Vista Enhancer Browser at Lawrence Berkeley Laboratory * Tested element.txt: Download the text file mCF143metadata.txt from the External Reference section
DOI: 10.25550/trt
title: microCT - Soft Tissue of a Ctgf+/+ Control mouse at E14.5

description: Mouse ID: CP306 This dataset includes microCT scans of the skull of a Ctgf+/+ Control mouse at E14.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/va4
title: microCT - Bone Tissue of Wnt1-Cre;Tgfbr2fl/fl mouse at E18.5

description: Mouse ID: JI218 This dataset includes 1 microCT scan of the skull of a Wnt1-Cre; Tgfbr2fl/fl mouse at E18.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vd2
title: Transgenic Mouse Enhancer Assay - Vista Enhancer ID: mm919

description: See link to the data preparation protocols for this study in the Additional Information section **Enhancer location:** Mouse genome mm9, chr8: 26550663-26552575 **Name:** mCF160 **Vista Enhancer ID:** mm919 **Nearest craniofacial gene or locus:** Fgfr1 **Enhancer expression:** positive **Tissues where active:** facial mesenchyme, limb **Comment on OPT files:** none This data set includes the following: * 4 movie (.avi) files: A CLIP file that provides an overview of the 3-D model generated by Optical Projection Tomography (OPT)Thresholding-based false-color representation shows unstained regions of the embryo in green, LacZ signal in red. In addition, 3 movies representing a pass-through view of the OPT model in the coronal, sagittal, or transverse plane. * 4 files in .tgz format. Each of these corresponds to one of the .avi files and unzips to a set of .png files, each of which represents the individual frames of the movie (and, in case of the transverse/sagittal/coronal movies, can be used to retrieve individual virtual sections through features of interest in .png image format). [.tgz files can be unzipped with WinZip or Stuffit on a PC or Mac. On linux, treat the file as a gzipped .tar file: gunzip &lt; file.tgz | tar xvf - ]
DOI: 10.25550/vng
title: microCT - Head soft tissue of Wnt1-Cre;Tgfbr2fl/fl;Alk5fl/+ mouse at E18.5

description: This dataset includes 1 microCT scan of the soft tissue of a Wnt1-Cre;Tgfbr2fl/fl;Alk5fl/+ mouse at stage E18.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vsy
title: microCT - Bone Tissue of Fgfr2flfl Control Mouse at P0

description: Mouse ID: ZZ188 This dataset includes 1 microCT scan of the skull of a Fgfr2flfl mouse at P0. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/1-3svp
title: FB0023_18mo male with hypertelorism_Candidate Gene: CARD8

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Joan Stoler of Boston Children's Hospital. Phenotype - Lobar holoprosencephaly - Significant midface hypoplasia - Hypoplastic nose and midface - Unilateral renal agenesis with Grade III-IV reflux of the right kidney
DOI: 10.25550/1-3sw6
title: FB0115_11yo male with dysmorphic facial features_Candidate Gene: HNRNPK

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Ophir Klein of UCSF Benioff Children's Hospital. Phenotype - Cleft lip - Developmental delay - Hearing loss - Hypotonia - Cleft lip and palate
DOI: 10.25550/1-50dw
title: OFC5: Meta GWAS Analysis of OFC1 and OFC4

description: **[Link to project pages of OFC5: Meta GWAS Analysis of OFC1 and OFC4](http://www.facebase.org/hgai/OFC5.html)** This project is a genome-wide meta-analyses of cleft lip with or without palate (CL/P), cleft palate alone (CP), and all orofacial clefts (OFCs) across two large, multiethnic studies, [GENEVA OFC](/hgai/OFC1.html) and [POFC](/hgai/OFC4.html), both of which can be explored through our Human GenomicsAnalysis Interface. For information about access to individual level data via dbGaP, study investigators and funding sources, please see the respective pages of the two original projects, [GENEVA OFC](/hgai/OFC1.html) and [POFC](/hgai/OFC4.html). The goal of this study is to identify additional genetic risk variants for OFCs, considering the historical groupings of CL/P and CP, but also exploring the possibility of shared etiology. Therefore, we conducted genome-wide meta-analyses for CL/P, CP, and all OFCs, drawing from the two of the largest CL/P studies published to date and the two published CP studies. In addition to the combined analysis of the two multiethnic study populations, we also conducted population specific meta-analyses in sub-samples of Asian and European ancestry. A total of 412 individuals, who were common to both the GENEVA OFC and POFC studies were excluded from the GWASs of the GENEVA OFC study for this analysis prior to meta-analysis. Click [here](/hgai/OFC5.html) to access the data and results for this dataset.
DOI: 10.25550/1-70ga
title: Activity of mouse neural crest enhancer intronic in Zfhx4 in E13.5 transgenic mouse embryos– Tg(mm10_chr3:5329672-5330626::LacZ).

description: Tg(mm10_chr3:5329672-5330626::LacZ) mouse neural crest enhancer with reproducible activity in the midbrain-hindbrain junction, periocular mesenchyme, frontonasal process and maxillary BA1 derived tissues, and limbs.
DOI: 10.25550/1-70he
title: Activity of chicken neural crest enhancer intronic in Zfhx4 in E13.5 transgenic mouse embryos– Tg(galGal6_chr2:119369485-119370436::LacZ).

description: Tg(galGal6_chr2:119369485-119370436::LacZ) chicken neural crest enhancer with reproducible activity in the forebrain-midbrain and midbrain-hindbrain junctions, periocular mesenchyme, frontonasal process and maxillary BA1 derived tissues, and limbs.
DOI: 10.25550/tn6
title: microCT - Soft Tissue of K14-Cre;Fgfr2flfl Mouse at P0

description: Mouse ID: ZZ190 This dataset includes microCT scans of the skull of a K14-Cre; Fgfr2flfl mouse at P0. The scans are in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/ts2
title: Transgenic Mouse Enhancer Assay - Vista Enhancer ID: mm451

description: See link to the data preparation protocols for this study in the Additional Information section See links to Genome Browser in the Additional Information section. **Enhancer location:** Mouse genome mm9, chr6:143385863-143387546 **Name:** mCF137 **Vista Enhancer ID:** mm451 **Nearest craniofacial gene or locus:** Sox4 **Enhancer expression:** Other This data set includes the following: * A .pdf file that summarizes the whole-mount data for the tested element. This file includes light microscopy whole-mount images of the LacZ reporter gene expression in mouse embryos, a summary of the annotation of the expression pattern, the DNA sequence of the tested element in Fasta format, and the sequences of the primers used to generate the test construct. Follow corresponding link in the Additional Information section to see this information in the Vista Enhancer Browser at Lawrence Berkeley Laboratory * Tested element.txt: Download the text file mCF137metadata.txt from the External Reference section
DOI: 10.25550/vkr
title: microCT - Soft Tissue of a Wnt1-Cre; Tgfbr2fl/fl; Alk5fl/+ mouse at E17.5

description: Mouse ID: AS342 This dataset includes microCT scans of the skull of a Wnt1-Cre; Tgfbr2fl/fl; Alk5fl/+ mouse at E17.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vsp
title: Micro-CT images of adult mouse skulls, Collaborative Cross NOD x CAST

description: The dataset consists of a set of images for 21 mice with one parent from the NOD strain, and the other from the CAST strain. For each mouse we provide an image file in .aim format, a .txt file with the image data, and a .hx file. Morphometrics will be added for the data as measurements are completed.
DOI: 10.25550/v4r
title: microCT - Bone Tissue of C57BL6J Mouse at P0

description: Mouse ID: JI235 This dataset includes 1 microCT scan of the skull of a C57BL6J mouse at P0. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vfr
title: Gene expression profiling of the palate in mice with a conditional inactivation of Erk2 at embryonic day E13.5

description: We performed global gene expression analyses of the palate in Wnt1-Cre;Erk2^fl/fl and Erk2^fl/fl control mice at embryonic day E13.5. Total RNA samples (1 ug per sample) were converted into biotin-labeled cRNA using the Enzo BioArray Terminal Labeling Kit with Biotin-ddUTP and standard protocols recommended by Affymetrix (Santa Clara, CA). Fragmented cDNA was applied to GeneChip® Mouse Genome 430 2.0 Arrays (Affymetrix) that contain probe sets designed to detect over 39000 transcripts. Microarrays were hybridized, processed and scanned as previously described using manufacturers recommended conditions.
DOI: 10.25550/vsg
title: Micro-CT images of adult mouse skulls, Collaborative Cross A/J x NZO

description: The dataset consists of a set of images for 2 mice with one parent from the A/J strain, and the other parent from the NZO strain. For each mouse we provide an image file in .aim format, a .txt file with the image data, and a .hx file. Morphometrics will be added for the data as measurements are completed.
DOI: 10.25550/vte
title: microCT - Soft Tissue of C57BL6J at P0

description: This dataset includes 1 microCT scan of the skull of a C57BL6J mouse at P0. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.21227/20vx-9759
title: Energy Storage in Aircrafts

description: All technologies is adapting renewable energy source to reduce pollution in theenvironment. Aircraft uses fuel which causes great amount of C02 emissionwhich pollutes the environment. So to reduce the pollution caused by aircrafts,research is going on aircrafts for being converted to more electric aircrafts(MEA)or hybrid aircrafts(HEA) which will require energy storage which is light and ofhuge capacity. The main challenge is energy storage in aircrafts and I willdiscussing about this issue in this report.
DOI: 10.21227/246j-w869
title: Energy Storage in Aircrafts

description: All technologies is adapting renewable energy source to reduce pollution in the environment. Aircraft uses fuel which causes great amount of C02 emission which pollutes the environment. So to reduce the pollution caused by aircrafts,research is going on aircrafts for being converted to more electric aircrafts(MEA) or hybrid aircrafts(HEA) which will require energy storage which is light and of huge capacity. The main challenge is energy storage in aircrafts and I will be discussing about this issue in this report.
DOI: 10.21227/nsym-xe81
title: Energy Storage in Aircrafts

description: All technologies is adapting renewable energy source to reduce pollution in theenvironment. Aircraft uses fuel which causes great amount of C02 emissionwhich pollutes the environment. So to reduce the pollution caused by aircrafts,research is going on aircrafts for being converted to more electric aircrafts(MEA)or hybrid aircrafts(HEA) which will require energy storage which is light and ofhuge capacity. The main challenge is energy storage in aircrafts and I willdiscussing about this issue in this report.
DOI: 10.25550/tty
title: microCT - Soft Tissue of a Tgfbr2fl/+;Alk5fl/fl mouse at E17.5

description: Mouse ID: AS327 This dataset includes microCT scans of the skull of a Tgfbr2fl/+;Alk5fl/fl mouse at E17.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/tvy
title: Transgenic Mouse Enhancer Assay - Vista Enhancer ID: mm415

description: See link to the data preparation protocols for this study in the Additional Information section See links to Genome Browser in the Additional Information section. **Enhancer location:** Mouse genome mm9, chr14:24305238-24305824 **Name:** mCF101 **Vista Enhancer ID:** mm415 **Nearest craniofacial gene or locus:** ZFP503 This data set includes the following: * A .pdf file that summarizes the whole-mount data for the tested element. This file includes light microscopy whole-mount images of the LacZ reporter gene expression in mouse embryos, a summary of the annotation of the expression pattern, the DNA sequence of the tested element in Fasta format, and the sequences of the primers used to generate the test construct. Follow corresponding link in the Additional Information section to see this information in the Vista Enhancer Browser at Lawrence Berkeley Laboratory * Tested element.txt: Download the text file mCF101metadata.txt from the External Reference section
DOI: 10.25550/v5r
title: microCT - Soft Tissue of a Wnt1-Cre; Tgfbr2fl/fl; Alk5fl/+ mouse at E16.5

description: Mouse ID: JI329 This dataset includes microCT scans of the skull of a Wnt1-Cre; Tgfbr2fl/fl; Alk5fl/+ mouse at E16.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/ve6
title: microCT - Bone Tissue of Msx1 mouse at E18.5

description: This dataset includes 1 microCT scan of the skull of an Msx1 mouse at E18.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vq0
title: microCT - Soft Tissue of a Smad4fl/fl mouse at P0

description: Mouse ID: JF270 This dataset includes microCT scans of the skull of a Smad4fl/fl mouse at P0. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.17632/8ck7hjy4ry.1
title: Data for: A method for geometric error identification of five-axis machine tool using laser tracker

description: The volumetric errors of a set of 150 measurement points in the five-axis machine tool workspace measured by the laser tracker.
DOI: 10.17632/vtkvn93kts.1
title: Ratings of the emotional valence and arousal of collocations and their constituent words: How can they be useful in L2 vocabulary research?

description: Supplementary Materials: Excel sheet showing focal vocabulary items and data These materials consist of conventional multiword expressions (MWEs) and various associated measures. All these MWEs are composed of two words. The most common structures are N-N, Adj-N, and V-_. There are essentially two sets of MWEs, although the MWEs within them are mostly the same. The first set figured in the study relating to emotional valence; the second set figured in the study relating to arousal. The whole MWE ratings of valence and arousal were crowd-sourced using Amazon Mechanical Turk (AMT) (https://www.mturk.com/), The corresponding ratings of the constituent words stem from a list compiled by Warriner, Kuperman, and Brysbaert (2013). The list itself is available at: http://crr.ugent.be/archives/1003. See the main article for further details. Associated with each set of MWEs is a smaller set of MWEs having both AMT ratings and ratings from Warriner et al. These matched, ‘overlapping’ ratings were used to assess the reliability of the new AMT ratings. In the main lists of MWEs these overlappers are given in red italics. Additionally, there are lists of regression residuals. The closer a residual is to zero, the more accurately MWE valence/arousal was predicted by the valence/arousal ratings of the mean of the constituent word ratings. Important abbreviations used in the spreadsheet are: AMT = Amazon Mechanical Turk; C-word = Constituent word; Geo.mean = Geometrical mean; Harm.mean = Harmonic mean; Most valenced = The C-word rating that is the furthest from 5 (i.e., neutral) either toward 1 or toward 9; SD = The standard deviation of the individual AMT ratings obtained for a given MWE; WKB = Warriner et al. (2013); NA = not available. NA was used in place of values (e.g., C-word ratings) that could not be found in the list of WKB. This abbreviation was chosen because the R functions used in the studies can handle datasets that include NA in place of a missing value. For instance, the appropriate calls in base R for calculating Spearman’s and Pearson’s correlations between the variables x and y, when NAs are present, are: cor(x, y, method = "s", use = "pairwise.complete.obs") and cor(x, y, method = "p", use = "pairwise.complete.obs"). The R functions of Wilcox (2012) that were used handle missing values even more automatically. For example, when Wilcox’s R functions are installed (https://dornsife.usc.edu/labs/rwilcox/software/), the call corb(x,y, corfun = spear, nboot = 20000) gives a bootstrap 95% confidence interval for Spearman’s correlation. The call for the median-based linear regression method that is mentioned would be: tsreg(x, y), where x and y are the independent and the dependent variables, respectively. Reference Warriner, A., Kuperman, V., & Brysbaert, M. (2013). Norms of valence, arousal, and dominance for 13,915 English lemmas. Behavior Research Methods, 45, 1191–11207. https://doi.org/10.3758/s13428-012-0314-x