(Q37543773)

20 August 2017

Searching for missing heritability: designing rare variant association studies (English)

1 reference

20 August 2017

1 reference

10

Eric S Lander

1 reference

20 August 2017

Kaitlin Samocha

3

0 references

Sekar Kathiresan

series ordinal

6

object named as

Sekar Kathiresan

1 reference

20 August 2017

7

Mark J Daly

1 reference

20 August 2017

2

Stephen F Schaffner

1 reference

20 August 2017

8

Benjamin M Neale

1 reference

20 August 2017

1

Or Zuk

1 reference

20 August 2017

9

Shamil R Sunyaev

1 reference

20 August 2017

5

Eliana Hechter

1 reference

20 August 2017

Ron Do

4

1 reference

PMCID

3910587

20 August 2017

language of work or name

English

0 references

publication date

17 January 2014

1 reference

Proceedings of the National Academy of Sciences of the United States of America

20 August 2017

1 reference

20 August 2017

111

1 reference

20 August 2017

4

1 reference

20 August 2017

E455-64

1 reference

Whole-genome sequence-based analysis of high-density lipoprotein cholesterol

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Sequencing studies in human genetics: design and interpretation.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Seventy-five genetic loci influencing the human red blood cell

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Exome sequencing and the genetic basis of complex traits

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Patterns and rates of exonic de novo mutations in autism spectrum disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

The empirical power of rare variant association methods: results from sanger sequencing in 1,998 individuals

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

The mystery of missing heritability: Genetic interactions create phantom heritability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Clan genomics and the complex architecture of human disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Computational and statistical approaches to analyzing variants identified by exome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Rare-variant association testing for sequencing data with the sequence kernel association test

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Genome partitioning of genetic variation for complex traits using common SNPs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Testing for an unusual distribution of rare variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Hundreds of variants clustered in genomic loci and biological pathways affect human height

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Biological, clinical and population relevance of 95 loci for blood lipids

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Common SNPs explain a large proportion of the heritability for human height

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

A method and server for predicting damaging missense mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Finding the missing heritability of complex diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Power of deep, all-exon resequencing for discovery of human trait genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Assessing the evolutionary impact of amino acid mutations in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

The distribution of fitness effects of new mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Medical sequencing at the extremes of human body mass

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

The strength of selection on ultraconserved elements in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Genetics of Obesity in Humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

The distribution of fitness effects of new deleterious amino acid mutations in humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Natural selection on protein-coding genes in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Small fitness effect of mutations in highly conserved non-coding regions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE POPULATION

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

On the allelic spectrum of human disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Are rare variants responsible for susceptibility to complex diseases?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Mapping mendelian factors underlying quantitative traits using RFLP linkage maps

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Inferring causality and functional significance of human coding DNA variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Comparison of statistical tests for disease association with rare variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Recent explosive human population growth has resulted in an excess of rare genetic variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3910587

Mendelian disorders and multifactorial traits: the big divide or one for all?

1 September 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322563111

Diffusion models in population genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322563111

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322563111

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322563111

Fertility of Patients With Schizophrenia, Their Siblings, and the General Population: A Cohort Study From 1950 to 1959 in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1322563111

Distribution of the strength of selection against amino acid replacements in human proteins

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24443550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1322563111

1 reference

20 August 2017

0 references

1 reference

20 August 2017

1 reference

PMCID

3910587