The promise of discovering population-specific disease-associated genes in South Asia

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

(2017) Anju Shukla et al.   JOURNAL OF HUMAN GENETICS

ARGON: fast, whole-genome simulation of the discrete time Wright-fisher process

(2016) Pier Francesco Palamara   BIOINFORMATICS

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

(2016) Swapan Mallick et al.   NATURE

Genomic reconstruction of the history of extant populations of India reveals five distinct ancestral components and a complex structure

(2016) Analabha Basu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel and recurrent mutations inWISP3and an atypical phenotype

(2015) Gandham SriLakshmi Bhavani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Global diversity, population stratification, and selection of human copy-number variation

(2015) Peter H. Sudmant et al.   SCIENCE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

GALNSmutations in Indian patients with mucopolysaccharidosis IVA

(2014) Abdul Mueed Bidchol et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Unity in diversity: an overview of the genomic anthropology of India

(2014) Sarabjit S. Mastana   ANNALS OF HUMAN BIOLOGY

Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community

(2014) HARSHA KARUR RAJASIMHA et al.   Genetics Research

Reducing Pervasive False-Positive Identical-by-Descent Segments Detected by Large-Scale Pedigree Analysis

(2014) Eric Y. Durand et al.   MOLECULAR BIOLOGY AND EVOLUTION

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Genetic Evidence for Recent Population Mixture in India

(2013) Priya Moorjani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data

(2013) B. L. Browning et al.   GENETICS

Analysis of theWISP3gene in Indian families with progressive pseudorheumatoid dysplasia

(2012) Ashwin Dalal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ancient Admixture in Human History

(2012) N. Patterson et al.   GENETICS

Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia

(2011) Mait Metspalu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genome-wide structure of the Jewish people

(2010) Doron M. Behar et al.   NATURE

Can Population-Based Carrier Screening Be Left to the Community?

(2009) Aviad E. Raz   Journal of Genetic Counseling

Reconstructing Indian population history

(2009) David Reich et al.   NATURE

Whole population, genome-wide mapping of hidden relatedness

(2008) A. Gusev et al.   GENOME RESEARCH