http://ritg.med.harvard.edu/training/perl/RC_Perl_Intro.pdf

Our main research themes are:

Domain annotation and metagenomics
Transcriptomics and sequence analysis
Protein evolution and interactions
Protein conformational dynamics

More at http://www.lcqb.upmc.fr/AnalGenom/home.html

Address of the bookmark: http://cbb.sjtu.edu.cn/course/database/beginning.pdf

Bioinformatics
Cancer
Epigenetics

More at http://liulab.dfci.harvard.edu/

What are SNPs?
SNPs (pronounced "snips") are positions in the genome where individuals differ by a single nucleotide. For example:

Reference: ...A T G C A T G A...
Variant:     ...A T G T A T G A...

Here, the C in the reference genome has been replaced by a T in the variant.

SNPs occur roughly every 300–1,000 bases in the human genome, meaning there are millions of them scattered throughout our DNA. Most SNPs have no effect on health, but some are linked to disease susceptibility, drug response, and other traits.

Why Do We Analyze SNPs?
1. Medical Genetics

Identify disease-associated variants (e.g., BRCA1/2 in breast cancer).

Predict drug response (pharmacogenomics).

Enable precision medicine by tailoring treatments.

2. Population Genetics & Ancestry

Trace human migration and ancestry.

Study genetic diversity within and between populations.

3. Agriculture & Animal Breeding

Select for desirable traits (drought resistance, yield, disease resistance).

Improve breeding efficiency in livestock.

4. Evolutionary Biology

Track natural selection.

Study adaptation in wild populations.

How is SNP Analysis Performed?
SNP analysis can be broadly divided into three steps:

SNP Detection
Genotyping arrays: Chips that test hundreds of thousands of known SNP positions simultaneously. Fast and affordable, widely used in consumer ancestry testing.

Whole-genome or whole-exome sequencing: Can detect known and novel SNPs across the genome.

Targeted sequencing or PCR: For focused analysis of specific regions.

Variant Calling
Sequencing data is aligned to a reference genome. Bioinformatics tools (e.g., GATK, bcftools) identify positions where the sequenced sample differs from the reference.

Annotation and Interpretation
Tools (e.g., SnpEff, VEP) predict the functional impact of SNPs.

Are the SNPs in coding regions? Do they cause amino acid changes? Are they known to be pathogenic?

Databases like dbSNP, ClinVar, and GWAS Catalog provide information on known associations.

Common Tools for SNP Analysis
Alignment: BWA, Bowtie2

Variant Calling: GATK, FreeBayes

Visualization: IGV, UCSC Genome Browser

Annotation: SnpEff, VEP

Statistical Analysis: PLINK, SNPTEST

Challenges in SNP Analysis
False positives/negatives: Sequencing errors, alignment issues.

Population stratification: Confounding in association studies.

Interpretation: Many SNPs have unknown or complex effects.

Researchers address these with rigorous quality control, large datasets, and increasingly sophisticated statistical models.

The Future of SNP Analysis
With advances in sequencing technology and AI-driven analysis, SNP studies are expanding:

Polygenic risk scores predict disease risk based on thousands of SNPs.

Large-scale biobanks (e.g., UK Biobank, All of Us) enable powerful genome-wide association studies (GWAS).

CRISPR and functional assays help validate SNP effects in the lab.

SNP analysis is at the heart of the genomic revolution, promising insights into biology, health, and evolution at unprecedented scale.

Conclusion
From diagnosing rare diseases to designing better crops, SNP analysis is a foundational tool in modern science. As our ability to sequence and interpret genomes improves, so will our understanding of these tiny—but mighty—variations in DNA.

Near Basant Vihar G.T. Road Bypass P.O. Box No.129

Karnal - 132001 (Haryana)

WALK-IN-INTERVIEW

A walk-in-Interview is proposed to be held at National Bureau of Animal Genetic Resources, Karnal (Haryana)-132001 at 10:30 AM on 10.06.2015 to select One Research Associate as per details given below:

1. One post of Research Associate under National Fellow project entitled “Genome data mining to unravel molecular basis of thermotolerance and adaptation to diverse environments in native cattle and buffaloes”.

The post duration is Upto 22.05.2016 or earlier & Co-terminus with the project.

Essential Qualifications: Master’s degree (M.Sc. / M.V.Sc.) in Biotechnology/ Animal Genetics and Breeding/ Life Sciences/ Bioinformatics with 2 Years research experience in relevant subject or Ph.D in any of the above subjects.

Desirable: Working Experience in molecular biology, gene expression/ microarray data analysis, SNP genotyping and sequence data analysis, mammalian cell-culture handling etc.

Emolument: Rs. 23,000/- per month + HRA as per admissibility

Research Associate: ONE

Duration of engagement: Upto 22.05.2016 or earlier Co-terminus with the project

Age Limit:  40 years for Men  45 years for women as on date of interview

Note: Relaxation in age will be admissible for SC/ST & OBC candidates as per Govt. of India /ICAR norms

1. The applicants must bring with them original documents and brief of research work done during post graduation along with a set of photocopy and latest two passport size photographs. 2. A panel of selected candidates will also be made which may be utilized for filling of positions of shorter durations in future if demand arises. 3. Experience certificate in original, if any 4. The above positions are purely on temporary basis and are coterminus with the project. No TA/DA will be paid to attend the interview. 5. Any other clarifications can be had on the date of interview. 6. The Director’s decision will be final and binding on all respects.

Advertisement: http://210.212.93.85/RAadvertisiment.pdf

1. FASTA
2. FASTQ
3. SAM
4. BAM
5. VCF
6. GFF
7. GTF

Address of the bookmark: https://bioinformatics.uconn.edu/resources-and-events/tutorials/file-formats-tutorial/

Post: Junior Research Fellow (1 Position)

Duration: Three years

Qualification: First class in M.Sc/M.tech in Bioinformatics/Life Sciences/Biophysics/ Biostatistics/Bioengineering. Experience in Database development, NGS data analysis, Systems Biology and Structural Bioinformatics is desired. Preference will be given to the candidates with good computer programming skills in C, C++, R, Perl, PHP, Unix Scripting etc.

Selected candidates will be paid fellowship as per existing DST norms.

How to apply:

Candidates are requested to apply through one of the two modes given below
1. Online application – Click here to submit the online application https://docs.google.com/forms/d/16h2GLnQ-Ny-tLtlgfY3Bx3sCjeHJE30cfhJaDqW_uRs/viewform?c=0&w=1
2. Application forms can be downloaded from here.https://docs.google.com/file/d/0BwwJEudQStxFWXdNWXl4NWtDaWc/edit
Filled in application form should be sent by post to Dr. D. Bharanidharan, Department of Bioinformatics, Aravind Medical Research Foundation No 1, Anna Nagar Madurai – 625 020,

Candidates should apply by online or submit their applications by post on or before 15th June, 2015. Only Short listed candidates will be called for an interview. No TA/DA will be paid.

• Expansion of Protists and Fungi with hundreds of annotated genomes
• Variation data for bread wheat, rice, Aedes aegypti, and Ixodes scapularis
• Whole genome alignments for O. longistaminata and T. cacao
• Non-coding RNA gene models in Bacteria
• New assembly of tomato (version 2.50)
• Full support for UCSC Track Hub format for hosting your own data in Ensembl

More at http://www.ensembl.info/blog/2015/06/16/ensembl-genomes-release-27-is-out/

Minimum qualification: MSc in any branch of life sciences

Applications are invited for the position of a Research Assistant in the Centre for Human Genetics, Bangalore.

The project involves identification of mutations in MPS (mucopolysaccharidosis) patients, and study of their predicted effects to understand how the mutations lead to disease.

Techniques used will be genomic DNA isolation, PCR, DNA sequencing and sequence analysis. Computational tools would also be used to analyse and interpret data.

Candidates may be assigned work in the ongoing project or in new ones.

The candidate who is selected and joins would acquire hands-on experience in research and the capability to conduct insightful research.

Candidates applying for the position should have an MSc in any branch of life sciences. Those with research experience in cell and molecular biology, and high NET/ GATE score would be preferred.

The successful applicant is expected to stay for at least one and a half years.

Please apply with CV to Sudha Srinivasan (sudha@ibab.ac.in), stating where you saw this ad.