nordiag

A framework for variation discovery and genotyping using next-generation DNA sequencing data.

A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Recent advances in sequencing technology make it possible to comprehensively catalog genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution. The amounts of raw data produced are prodigious, and many computational steps are required to translate this output into high-quality variant calls. We present a unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and specific results across five sequencing technologies and three distinct, canonical experimental designs.
 
Our process includes (i) initial read mapping; (ii) local realignment around indels; (iii) base quality score recalibration; (iv) SNP discovery and genotyping to find all potential variants; and (v) machine learning to separate true segregating variation from machine artifacts common to next-generation sequencing technologies. We here discuss the application of these tools, instantiated in the Genome Analysis Toolkit, to deep whole-genome, whole-exome capture and multi-sample low-pass (∼4×) 1000 Genomes Project datasets.

nordiag

Match cell/lid QS LP10mm 1.4ml

CEL2120 1PR
EUR 343.37

Match cell/stpr QS/GLP10mm 3.5ml

CEL2052 1PR
EUR 454.35

Total RNA - Mouse Normal Tissue: Brain

R1334035-50 50 ug
EUR 130

Rat Creatine kinase for muscle and brain (CKMB)

QY-E11888 96T
EUR 448.8

Genomic DNA - Mouse Normal Tissue: Brain

D1334035 100 ug
EUR 286

Total RNA - Human Adult Normal Tissue: Brain

R1234035-50 50 ug
EUR 170

Matched Pair - DNA - Human Primary Tumor and Normal Tissue: Lung

D8235152-PP-10 2x10 ug
EUR 416

Total RNA - Monkey (Rhesus) Normal Tissue: Brain

R1534035-50 50 ug
EUR 191

Matched Pair - DNA - Human Primary Tumor and Normal Tissue: Colon

D8235090-PP-10 2x10 ug
EUR 416

Matched Pair - DNA - Human Primary Tumor and Normal Tissue: Liver

D8235149-PP-10 2x10 ug
EUR 416

Matched Pair - Total RNA - Human Primary Tumor and Normal Tissue: Lung

R8235152-PP-10 2x10 ug
EUR 463

Brain Dissociation System 7 (Endothelial), Mouse and Rat

4-20227 ea Ask for price

Matched Pair - DNA - Human Primary Tumor and Normal Tissue: Breast

D8235086-PP-10 2x10 ug
EUR 416

Matched Pair - DNA - Human Primary Tumor and Normal Tissue: Kidney

D8235142-PP-10 2x10 ug
EUR 416

Matched Pair - DNA - Human Primary Tumor and Normal Tissue: Rectum

D8235206-PP-10 2x10 ug
EUR 416

Brain and Acute Leukemia, Cytoplamatic

PR27238 2 ug
EUR 229.2

Matched Pair - Total RNA - Human Primary Tumor and Normal Tissue: Colon

R8235090-PP-10 2x10 ug
EUR 463

Matched Pair - Total RNA - Human Primary Tumor and Normal Tissue: Liver

R8235149-PP-10 2x10 ug
EUR 463

Matched Pair - DNA - Human Primary Tumor and Normal Tissue: Stomach

D8235248-PP-10 2x10 ug
EUR 416

Matched Pair - Total RNA - Human Primary Tumor and Normal Tissue: Breast

R8235086-PP-10 2x10 ug
EUR 463

Matched Pair - Total RNA - Human Primary Tumor and Normal Tissue: Kidney

R8235142-PP-10 2x10 ug
EUR 463

Matched Pair - Total RNA - Human Primary Tumor and Normal Tissue: Rectum

R8235206-PP-10 2x10 ug
EUR 463

Total RNA - Monkey (Cynomolgus) Normal Tissue: Brain

R1534035-Cy 50 ug
EUR 191

Matched Pair - DNA - Human Primary and Metastatic Tumor Tissue: Lung

D8235152-PM-10 2x10 ug
EUR 690

Matched Pair - Total RNA - Human Primary Tumor and Normal Tissue: Stomach

R8235248-PP-10 2x10 ug
EUR 463

Matched Pair - DNA - Human Primary and Metastatic Tumor Tissue: Colon

D8235090-PM-10 2x10 ug
EUR 690

Matched Pair - DNA - Human Primary and Metastatic Tumor Tissue: Liver

D8235149-PM-10 2x10 ug
EUR 690

Brain tumor and brain tissue array(2016 WHO CNS tumor classification)

GL208a each
EUR 546
Description: Brain tumor and brain tissue array(2016 WHO CNS tumor classification), including pathology grade, 69 cases/207 cores (cores size 1.0mm), replacing GL208

Matched Pair - Total RNA - Human Primary and Metastatic Tumor Tissue: Lung

R8235152-PM-10 2x10 ug
EUR 716

Matched Pair - DNA - Human Primary and Metastatic Tumor Tissue: Breast

D8235086-PM-10 2x10 ug
EUR 690

Matched Pair - DNA - Human Primary and Metastatic Tumor Tissue: Kidney

D8235142-PM-10 2x10 ug
EUR 690

Matched Pair - DNA - Human Primary and Metastatic Tumor Tissue: Rectum

D8235206-PM-10 2x10 ug
EUR 690

Brain tumor and normal tissue array

GL1002 each
EUR 306
Description: Brain tumor and normal tissue array, 50 cases/100 cores

Brain tumor and normal tissue array

GL1201 each
EUR 330
Description: Brain tumor and normal tissue array, including Meningioma and Astrocytoma, Oligodendroglioma, Glioblastoma, Neurilemmoma, Medulloblastoma, Ependymoma, lymphoma, Choroids plexus papilloma, Pituitary adenoma, Germ cell tumours, Acoustic neuroma, craniopharyngioma, Haemangioblastoma, Primal neuroectodermal tumor, with pathology grade, 120 cases/120 cores (core size 1.5mm),replacing BC17013

Brain tumor and normal tissue array

GL721 each
EUR 306
Description: Brain tumor and normal tissue array, including pathology grade, 24 cases/72 cores

FFPE and Frozen Matched Pair Genomic DNA: Human Tumor Tissue: Lung

D8235152-FP 2 x 2 ug
EUR 2374

Matched Pair - Total RNA - Human Primary and Metastatic Tumor Tissue: Colon

R8235090-PM-10 2x10 ug
EUR 716

Matched Pair - Total RNA - Human Primary and Metastatic Tumor Tissue: Liver

R8235149-PM-10 2x10 ug
EUR 716

Matched Pair - DNA - Human Primary and Metastatic Tumor Tissue: Stomach

D8235248-PM-10 2x10 ug
EUR 690

Brain cancer and normal tissue array

GL1001a each
EUR 306
Description: Brain cancer and normal tissue array, including pathology grade, 100 cases/100 cores, replacing GL1001

FFPE and Frozen Matched Pair Genomic DNA: Human Tumor Tissue: Colon

D8235090-FP 2 x 2 ug
EUR 2374

Matched Pair - Total RNA - Human Primary and Metastatic Tumor Tissue: Breast

R8235086-PM-10 2x10 ug
EUR 716

Matched Pair - Total RNA - Human Primary and Metastatic Tumor Tissue: Kidney

R8235142-PM-10 2x10 ug
EUR 716

Matched Pair - Total RNA - Human Primary and Metastatic Tumor Tissue: Rectum

R8235206-PM-10 2x10 ug
EUR 716

Total RNA - Human Adult Normal Tissue: Brain: Pons

R1234071-10 10 ug
EUR 183

FFPE and Frozen Matched Pair Total RNA: Human Adult Normal Tissue: Liver

R8234149-FP 2x1 ug
EUR 1664

Brain Dissociation System 2 (Glial, Schwann), Mouse and Rat

4-20222 ea Ask for price

FFPE and Frozen Matched Pair Genomic DNA: Human Tumor Tissue: Breast

D8235086-FP 2 x 2 ug
EUR 2374

Matched Pair - Total RNA - Human Primary and Metastatic Tumor Tissue: Stomach

R8235248-PM-10 2x10 ug
EUR 716

FFPE and Frozen Matched Pair Genomic DNA: Human Tumor Tissue: Stomach

D8235248-FP 2 x 2 ug
EUR 2520

Brain Dissociation System 5 (Cerebral cortex), Mouse and Rat

4-20225 ea Ask for price

Kidney And Brain Protein (KIBRA) Antibody

20-abx177265
  • EUR 1612.80
  • EUR 760.80
  • 1 mg
  • 200 ug

Kidney And Brain Protein (KIBRA) Antibody

20-abx131689
  • EUR 560.40
  • EUR 159.60
  • EUR 1612.80
  • EUR 760.80
  • EUR 410.40
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Total RNA - Human Adult Normal Tissue: Brain: Thalamus

R1234079-50 50 ug
EUR 170

Recombinant Kidney And Brain Protein (KIBRA)

4-RPL824Mu01
  • EUR 578.04
  • EUR 278.40
  • EUR 1837.63
  • EUR 692.54
  • EUR 1265.09
  • EUR 462.00
  • EUR 4414.08
  • 100 ug
  • 10ug
  • 1 mg
  • 200 ug
  • 500 ug
  • 50ug
  • 5 mg
Description: Recombinant Mouse Kidney And Brain Protein expressed in: E.coli

Total RNA - Human Adult Normal Tissue: Brain: Cerebellum

R1234039-50 50 ug
EUR 170

Rat Brain PrimaCell1: Normal Brain Fibroblasts

2-82511 1 Kit Ask for price

Brain Dissociation System 3 (Hippocampal neurons), Mouse and Rat

4-20223 ea Ask for price

Baalc ELISA Kit| Rat Brain and acute leukemia cytoplasmic prote

EF018386 96 Tests
EUR 826.8

Total RNA - Human Adult Normal Tissue: Brain: Hippocampus

R1234052-10 10 ug
EUR 643

Total RNA - Human Adult Normal Tissue: Brain: Diencephalon

R1234049-10 10 ug
EUR 183

Brain astrocytoma and meningioma tissue array

BC17013 each
EUR 306
Description: Brain astrocytoma and meningioma tissue array, 120 cases/120 cores

Rat Brain And Acute Leukemia Cytoplasmic Protein (BAALC) ELISA Kit

abx391033-96tests 96 tests
EUR 1093.2

Brain and Acute Leukemia, Cytoplasmatic Protein

20-abx262869
  • EUR 393.60
  • EUR 7676.40
  • EUR 276.00
  • 10 ug
  • 1 mg
  • 2 µg

Brain Dissociation System 4 (Endothelial, Microvessels), Mouse and Rat

4-20224 ea Ask for price

FFPE and Frozen Matched Pair Genomic DNA: Human Adult Normal Tissue: Liver

D8234149-FP 2 x 2 ug
EUR 2099

Total RNA - Human Adult Normal Tissue: Brain: Frontal Lobe

R1234051-50 50 ug
EUR 170

Mouse Kidney And Brain Protein (KIBRA) Protein

20-abx650801
  • EUR 811.20
  • EUR 326.40
  • EUR 2481.60
  • EUR 961.20
  • EUR 577.20
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Total RNA - Human Adult Normal Tissue: Brain: Parietal Lobe

R1234066-50 50 ug
EUR 170

Total RNA - Human Adult Normal Tissue: Brain: Temporal Lobe

R1234078-50 50 ug
EUR 170

Brain Dissociation System 6 (Brain), Fetal Rat

4-20226 ea Ask for price

Total RNA - Human Adult Normal Tissue: Brain: Occipital Lobe

R1234062-50 50 ug
EUR 170

Total RNA - Human Adult Normal Tissue: Brain: Cerebellum (left)

R1234040-10 10 ug
EUR 183

Total RNA - Human Adult Normal Tissue: Brain: Cerebral Cortex

R1234042-10 10 ug
EUR 183

Total RNA - Human Adult Normal Tissue: Brain: Corpus Callosum

R1234045-10 10 ug
EUR 183

Total RNA - Human Adult Normal Tissue: Brain: Cerebellum (right)

R1234041-10 10 ug
EUR 183

Total RNA - Human Adult Normal Tissue: Brain: Olfactory (region)

R1234063-10 10 ug
EUR 286

Total RNA - Human Adult Normal Tissue: Brain: Precentral Gyrus

R1234073-10 10 ug
EUR 183

Total RNA - Human Adult Normal Tissue: Brain: Cerebral Meninges

R1234043-10 10 ug
EUR 183

Total RNA - Human Adult Normal Tissue: Brain: Medulla oblongata

R1234057-50 50 ug
EUR 170

Total RNA - Human Adult Normal Tissue: Brain: Postcentral Gyrus

R1234072-10 10 ug
EUR 183

Pituitary And Brain Cadherin (PB Cadherin) Antibody

20-abx133389
  • EUR 360.00
  • EUR 526.80
  • EUR 226.80
  • 100 ul
  • 200 ul
  • 30 ul

Total RNA - Human Adult Normal Tissue 5 Donor Pool: Brain

R1234035-P 50 ug
EUR 370

Mouse Kidney And Brain Protein (KIBRA) CLIA Kit

20-abx495976
  • EUR 10282.80
  • EUR 5472.00
  • EUR 1262.40
  • 10 × 96 tests
  • 5 × 96 tests
  • 96 tests

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

20-abx154290
  • EUR 9004.80
  • EUR 4795.20
  • EUR 1111.20
  • 10 × 96 tests
  • 5 × 96 tests
  • 96 tests

Brain And Muscle ARNT-Like 1 (BMAL1) Antibody

abx148343-100ug 100 ug
EUR 526.8

Brain And Muscle ARNT-Like 1 (BMAL1) Antibody

abx430327-200ul 200 ul
EUR 460.8

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

DLR-KIBRA-Mu-48T 48T
EUR 679.2
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Kidney And Brain Protein (KIBRA) in samples from tissue homogenates, cell lysates or other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

DLR-KIBRA-Mu-96T 96T
EUR 889.2
Description: A sandwich quantitative ELISA assay kit for detection of Mouse Kidney And Brain Protein (KIBRA) in samples from tissue homogenates, cell lysates or other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

SEL824Mu-10x96wellstestplate 10x96-wells test plate
EUR 6400.37
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Mouse Kidney And Brain Protein (KIBRA) in Tissue homogenates, cell lysates and other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

SEL824Mu-1x48wellstestplate 1x48-wells test plate
EUR 632.27
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Mouse Kidney And Brain Protein (KIBRA) in Tissue homogenates, cell lysates and other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

SEL824Mu-1x96wellstestplate 1x96-wells test plate
EUR 851.81
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Mouse Kidney And Brain Protein (KIBRA) in Tissue homogenates, cell lysates and other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

SEL824Mu-5x96wellstestplate 5x96-wells test plate
EUR 3473.14
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Mouse Kidney And Brain Protein (KIBRA) in Tissue homogenates, cell lysates and other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

4-SEL824Mu
  • EUR 6460.80
  • EUR 3414.00
  • EUR 852.00
  • 10 plates of 96 wells
  • 5 plates of 96 wells
  • 1 plate of 96 wells
Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Mouse Kidney And Brain Protein (KIBRA) in samples from Tissue homogenates, cell lysates and other biological fluids. with no significant corss-reactivity with analogues from other species.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

RDR-KIBRA-Mu-48Tests 48 Tests
EUR 723.6

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

RDR-KIBRA-Mu-96Tests 96 Tests
EUR 1008

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

RD-KIBRA-Mu-48Tests 48 Tests
EUR 692.4

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

RD-KIBRA-Mu-96Tests 96 Tests
EUR 962.4

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

RD-KIBRA-Mu-48T 48T
EUR 506.3
Description: tissue homogenates, cell lysates and other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

RD-KIBRA-Mu-96T 96T
EUR 723.3
Description: tissue homogenates, cell lysates and other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

RDR-KIBRA-Mu-48T 48T
EUR 531.62
Description: tissue homogenates, cell lysates and other biological fluids.

Mouse Kidney And Brain Protein (KIBRA) ELISA Kit

RDR-KIBRA-Mu-96T 96T
EUR 759.47
Description: tissue homogenates, cell lysates and other biological fluids.

Brain Dissociation System 8 (Capillary endothelium, Pericytes), Mouse and Rat

4-20228 ea Ask for price

Genomic DNA - Dementia: Brain: Thalamus, from a single donor

D1236079Dem 50 ug
EUR 489

Genomic DNA - Alzheimer's Disease: Brain, from a single donor

D1236035Alz 50 ug
EUR 489

Genomic DNA - Parkinson's Disease: Brain, from a single donor

D1236035Par 50 ug
EUR 489

Rat Brain PrimaCell1: Normal Brain Fibroblasts Growth Medium

9-25011 5 x 100 ml Ask for price

Creatine Kinase, Muscle and Brain (CKM/CKB) Antibody

abx411275-01mg 0.1 mg
EUR 526.8

Recombinant Human Brain and Acute Leukemia, Cytoplasmatic

7-04471 2µg Ask for price

Recombinant Human Brain and Acute Leukemia, Cytoplasmatic

7-04472 10µg Ask for price

Recombinant Human Brain and Acute Leukemia, Cytoplasmatic

7-04473 1mg Ask for price

Genomic DNA - Depression: Brain: Thalamus, from a single donor

D1236079Dep 50 ug
EUR 489

Kin17 DNA And RNA Binding Protein (KIN) Protein

20-abx260971
  • EUR 4101.60
  • EUR 393.60
  • EUR 276.00
  • 1 mg
  • 20 ug
  • 5 ug

Kin17 DNA And RNA Binding Protein (KIN) Antibody

abx234575-100ug 100 ug
EUR 610.8

Kin17 DNA And RNA Binding Protein (KIN) Antibody

20-abx113374
  • EUR 878.40
  • EUR 477.60
  • 150 ul
  • 50 ul

Rat Brain Tissue Lysate

LYSATE0002 200ug
EUR 180
Description: This cell lysate is prepared from Rat Brain Tissue using Boster's RIPA Lysis Buffer (AR0105) using a standard whole cell lysate protocol. The concentration was determined using the BCA assay process and then diluted using Dithiothreitol (DTT) and a reducing SDS sample loading buffer, heated for 5 minutes at 100˚C.

Rat Brain Tissue Preparation Buffer 1: Normal Brain Fibroblasts

9-80218 1 x 100 ml Ask for price

ELISA kit for Mouse KIBRA (Kidney And Brain Protein)

ELK8022 1 plate of 96 wells
EUR 518.4
Description: A sandwich ELISA kit for detection of Kidney And Brain Protein from Mouse in samples from blood, serum, plasma, cell culture fluid and other biological fluids.

Kidney And Brain Protein (KIBRA) Polyclonal Antibody (Mouse)

4-PAL824Mu01
  • EUR 319.20
  • EUR 3375.60
  • EUR 832.80
  • EUR 404.40
  • EUR 266.40
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Mouse Kidney And Brain Protein (KIBRA)

Genomic DNA - Dementia: Brain: Frontal Lobe, from a single donor

D1236051Dem 50 ug
EUR 489

Total RNA - Human Adult Normal Tissue: Brain, Ambient temperature shipping

ATR1234035-50 50 ug
EUR 185

Genomic DNA - Dementia: Brain: Parietal Lobe, from a single donor

D1236066Dem 50 ug
EUR 489

Genomic DNA - Alzheimer's Disease: Brain: Pons, from a single donor

D1236071Alz 50 ug
EUR 489

Genomic DNA - Parkinson's Disease: Brain: Pons, from a single donor

D1236071Par 50 ug
EUR 489

Genomic DNA - Dementia: Brain: Temporal Lobe, from a single donor

D1236078Dem 50 ug
EUR 489

The 1982 revised criteria for the classification of systemic lupus erythematosus

The 1971 preliminary criteria for the classification of systemic lupus erythematosus (SLE) were revised and updated to incorporate new immunologic knowledge and improve disease classification. The 1982 revised criteria include fluorescence antinuclear antibody and antibody to native DNA and Sm antigen. Some criteria involving the same organ systems were aggregated into single criteria.
 
Raynaud’s phenomenon and alopecia were not included in the 1982 revised criteria because of low sensitivity and specificity. The new criteria were 96% sensitive and 96% specific when tested with SLE and control patient data gathered from 18 participating clinics. When compared with the 1971 criteria, the 1982 revised criteria showed gains in sensitivity and specificity.
 

Translating the histone code

Chromatin, the physiological template of all eukaryotic genetic information, is subject to a diverse array of posttranslational modifications that largely impinge on histone amino termini, thereby regulating access to the underlying DNA. Distinct histone amino-terminal modifications can generate synergistic or antagonistic interaction affinities for chromatin-associated proteins, which in turn dictate dynamic transitions between transcriptionally active or transcriptionally silent chromatin states.
 
The combinatorial nature of histone amino-terminal modifications thus reveals a “histone code” that considerably extends the information potential of the genetic code. We propose that this epigenetic marking system represents a fundamental regulatory mechanism that has an impact on most, if not all, chromatin-templated processes, with far-reaching consequences for cell fate decisions and both normal and pathological development.

Genomic sequencing

Unique DNA sequences can be determined directly from mouse genomic DNA. A denaturing gel separates by size mixtures of unlabeled DNA fragments from complete restriction and partial chemical cleavages of the entire genome. These lanes of DNA are transferred and UV-crosslinked to nylon membranes. Hybridization with a short 32P-labeled single-stranded probe produces the image of a DNA sequence “ladder” extending from the 3′ or 5′ end of one restriction site in the genome. Numerous different sequences can be obtained from a single membrane by reprobing.
 
Each band in these sequences represents 3 fg of DNA complementary to the probe. Sequence data from mouse immunoglobulin heavy chain genes from several cell types are presented. The genomic sequencing procedures are applicable to the analysis of genetic polymorphisms, DNA methylation at deoxycytidines, and nucleic acid-protein interactions at single nucleotide resolution.
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